Genetic Testing - Human gene mutations (diseases, neoplasias and pharmacogenetics)
- Genetic testing for mutations in the genes responsible for human diseases. The nucleotide sequence of the genes and the amino acid sequence of the protein encoded by genes responsible for disease.
- Genetic testing - 10q26 deletion syndrome - Chromosome 10.
- Genetic testing - 15q11-q13 duplication syndrome - Chromosome 15.
- Genetic testing - 2q37 deletion syndrome – HDAC4 gene, Chromosome 2.
- Genetic testing - 3q29 microdeletion syndrome – Chromosome 3.
- Genetic testing - 3q29 microduplication syndrome - Chromosome 3.
- Genetic Testing - Aarskog-Scott syndrome; Faciodigitogenital dysplasia - FGD1 gene.
- Genetic Testing - Abacavir, Abacavir hypersensitivity in patients with haplotype HLA-B 5701 I> (Hypersensitivity to abacavir In Patients With haplotype HLA-B 5701 I>.
- Genetic Testing - abdominal wall defect (Abdominal wall defect).
- Genetic testing - Abetalipoproteinemia (Bassen-Kornzweig syndrome ...; acanthocytosis) (Bassen-Kornzweig syndrome, Acanthocytosis) - MTTP gene.
- Genetic Testing - acatalasemia (acatalasemia) - Gen CAT I>.
- Genetic Testing - Aceruloplasminemia syndrome ..., (Aceruloplasminemia Syndrome) - Gen CP I>
- Genetic Testing - acetyl coenzyme A medium chain deficiency ..., (Medium-chain acyl-CoA dehydrogenase deficiency - MCAD-) - Gen ACADM.
- Genetic Testing - Achromatopsia (achromatopsia) - Genes CNGA3, CNGB3, GNAT2, and PDE6C PDE6H.
- Genetic Testing - aciduria hydroxyglutaric variety D-2 (types I and II), L-2, and D, L-2- (2-hydroxiglutaric aciduria D-2, L-2, and D, L-2) - Genes D2HGDH I> (D-2, type I), IDH2 I> (D-2, type II), L2HGDH I> (L-2) and SLC25A1 I
- Genetic Testing - Acrocallosal syndrome ..., (Acrocallosal syndrome) - Genes KIF7 I> and GLI3 I>.
- Genetic Testing - Acromesomelic dysplasia, Maroteaux type (Acromesomelic dysplasia, Maroteaux type) - Gen NPR2.
- Genetic Testing - acromícrica Dysplasia (Acromicric dysplasia) - Gen FBN1.
- Genetic testing - Acute intermittent porphyria - (See porphyrias).
- Genetic Testing - Acute Myeloid Leukemia normal cytogenetics (cytogenetically normal acute myeloid leukemia) - Genes NPM1, FLT3, DNMT3A, CEBPA Idh1 I> and IDH2 I>.
- Genetic Testing - Acute Myeloid Leukemia nuclear binding factor (Core binding factor acute myeloid leukemia) - Genes RUNX1, runx1t1, CBFB I> and MYH11.
- Genetic Testing - acute necrotizing encephalopathy type 1 (Acute necrotizing encephalopathy type 1) - Gen RANBP2 I>.
- Genetic testing - acute porphyrias - (See porphyrias).
- Genetic Testing - Acute promyelocytic leukemia (acute promyelocytic leukemia) - Genes PML I> and RARA.
- Genetic Testing - acylcarnitine translocase Carnitine--CACT-, deficiency ..., (Carnitine acylcarnitine tranlocase-deficiency -CACT) - Gen SLC25A20 I>.
- Genetic Testing - AcylCoA dehydrogenase, very long chain, deficiency ..., (Very long-chain acyl-CoA dehydrogenase deficiency -VLCAD) - Gen ACADVL.
- Genetic Testing - Adams-Oliver syndrome ..., (Adams-Oliver syndrome) - Genes ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1 and RBPJ.
- Genetic testing - ADCY5-related dyskinesia - ADCY5 gene.
- Genetic Testing - Addison autoimmune, disease ..., (Autoimmune Addison disease) - Genes CIITA, CTLA4, CYP27B1, HLA-DQA1, HLA-DQB1, HLA-DRB1, MICA, NLRP1 > and PTPN22 < / I>.
- Genetic Testing - Adenilosuccinatoliasa, deficiency ..., (adenylosuccinate lyase deficiency) - Gen ADSL I>.
- Genetic Testing - Adenine phosphoribosyltransferase deficiency of ..., (Adenine phosphoribosyltransferase deficiency) - Gen APRT.
- Genetic Testing - Adenocarcinoma lung (Lung adenocarcinoma) - Genes KRAS I> and BRAF I>.
- Genetic Testing - Adenoma parathyroid sporadic (nonfamilial parathyroid adenoma) - Gen CDKN1B.
- Genetic Testing - Adenoma sporadic pituitary (nonfamilial pituitary adenoma) - Gen CDKN1B.
- Genetic testing - Adenosine deaminase 2 deficiency (ADA2); Sneddon syndrome - CECR1 gene.
- Genetic Testing - Adenosine monophosphate deaminase -AMP-, ... deficiency; Myoadenylate deaminase deficiency (Adenosine monophosphate deaminase deficiency -AMP-; myoadenylate deaminase deficiency) - Gen AMPD1 I>.
- Genetic Testing - Adenosine monophosphate deaminase -AMP-, deficiency ..., (myoadenylate deaminase deficiency, deficiency ...; Myoadenylate deaminase deficiency of ...) (See Adenosine monophosphate deaminase).
- Genetic Testing - adermatoglyphia (adermatoglyphia) - Gen SMARCAD1.
- Genetic testing - Adrenomyeloneuropathy (See X-linked adrenoleukodystrophy)
- Genetic testing - ADULT syndrome ... (See Acro-Dermato-Unguel-Lacrimal-Dental syndrome) (Acro-Dermato-ungual-Tooth syndrome).
- Genetic testing - AEC syndrome ... (See Hay-Wells syndrome ...).
- Genetic Testing - Afibrinogenemia congenita syndrome ..., (Congenital Afibrinogenemia) - Genes FGA, FGB, FGG I>.
- Genetic Testing - African iron overload (African iron overload) - Gen SLC40A1 I>.
- Genetic testing - Age-related hearing loss.
- Genetic testing - agenesis of the corpus callosum (See CRASH syndrome ...; X-linked hydrocephalus, Syndrome MASA).
- Genetic testing - agenesis of the corpus callosum with peripheral neuropathy (See Andermann syndrome ...).
- Genetic testing - Aicardi-Goutières syndrome - TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, IFIH1 and ADAR genes.
- Genetic Testing - Albinism Oculocutaneous types 1, 2, 3 and 4 (Oculocutaneous albinism types 1, 2, 3 and 4) - Genes TYR, OCA2, TYRP1, SLC45A2 I> and MC1R I> .
- Genetic testing - Albright hereditary osteodystrophy (See Pseudohypoparathyroidism types Ia, Ib, Ic and II).
- Genetic testing - Aldosterone-producing adenoma - KCNJ5, CACNA1D and ATP1A1 genes
- Genetic testing - Alexander, disease ... (Alexander disease) - Gen GFAP I>.
- Genetic testing - Alfa glucosidase deficiency of ... (See sucrase-isomaltase congenital deficiency ...).
- Genetic Testing - Alfa-hydroxylase / 17,20 lyase deficiency 17 ..., (17 alpha-hydroxylase / 17, 20-lyase deficiency) - Gen CYP17A1 I>.
- Genetic testing - ALG1-congenital disorder of glycosylation, type Ik - ALG1 gene.
- Genetic testing - ALG12-congenital disorder of glycosylation – ALG12 gene.
- Genetic testing - Allergic asthma.
- Genetic testing - Allgrove syndrome ... (See Triple A syndrome ...).
- Genetic testing - Alopecia areata.
- Genetic Testing - Alpha-methylacyl CoA racemase expression, deficiency ..., (Alpha-methylacyl-CoA racemase deficiency) - Gen AMACR I>.
- Genetic Testing - Alpha-reductase deficiency 5-alpha reductase (5-alpha reductase deficiency) - Gen SRD5A2 I>.
- Genetic Testing - Alpha thalassemia (Bearers alpha-thalassemia, alpha thalassemia minor, Hbh Disease, Syndrome Hb Bart) (See Alpha-Thalassemia).
- Genetic testing - Alpha thalassemia - HBA1 and HBA2 genes.
- Genetic Testing - alpha thalassemia X-linked mental retardation syndrome ..., (Alpha thalassemia X-linked syndrome intellectual disability) - Gen ATRX I>.
- Genetic Testing - Alport syndrome ..., (Alport syndrome) - Genes COL4A3, COL4A4 I> and COL4A5.
- Genetic Testing - Alström syndrome ..., (Alström syndrome) - Gen ALMS1 I>.
- Genetic Testing - Alternating Hemiplegia of Childhood (Alternating hemiplegia of childhood) - Genes ATP1A2 I> or ATP1A3 I>.
- Genetic Testing - alveolo-capillary dysplasia with misalignment of pulmonary veins (alveolar capillary dysplasia With misalignment of pulmonary veins) - Gen FOXF1 I> and chromosome 16.
- Genetic testing - Alzheimer’s disease – APOE, APP, PSEN1 and PSEN2 genes.
- Genetic Testing - Amelogenesis imperfecta (imperfect Amelogenesis) - Genes AMELX, ENAM, MMP20 I> and FAM83H I>.
- Genetic Testing - amidinotransferase Arginine-glycine, deficiency ..., (Arginine: glycine amidinotransferase deficiency) - Gen GATM I>.
- Genetic Testing - Amyloidosis (Amyloidosis) - Gen SAA1.
- Genetic Testing - amyloidosis transthyretin (ATTR Transthyretin amyloidosis type); Familial amyloid polyneuropathy (FAP Familial Amyloid Polyneuropathy); familial amyloid cardiomyopathy (FAC: Familial Amyloid Cardiomiopathy) - Gen TTR
- Genetic Testing - amyloidosis type 1 (See familial amyloidotic polyneuropathy, PAF).
- Genetic testing - Amyotrophic lateral sclerosis - C9ORF72, SOD1, TARDBP and FUS genes.
- Genetic testing - Anauxetic dysplasia - RMRP gene.
- genetic testing - and uterine leiomyomata multiple cutaneous (MCUL) (See Hereditary leiomyomatosis and renal cancer).
- Genetic Testing - Andermann syndrome ..., (Agenesis of Corpus Callosum with Peripheral Neuropathy) (Andermann syndrome) - Gen SLC12A6 I>.
- Genetic testing - Andersen, Disease ... (See Glycogenoses type IV, Andersen's disease).
- Genetic testing - Andersen-Tawil Syndrome - KCNJ2 and KCNJ5 genes.
- Genetic testing - Androgen Insensitivity Syndrome - AR gene.
- Genetic Testing - Androgenic alopecia (androgenetic alopecia) - Gen AR.
- Genetic Testing - Anencefalia (Anencephaly) - Gen MTHFR.
- Genetic Testing - Aneurysm family aortic dissection (Familial thoracic aortic aneurysm and dissection -TAAD-) - Genes ACTA2 I> and TGFBR2.
- Genetic Testing - Angelman syndrome ..., (Angelman syndrome) - Genes OCA2, UBE3A I> and chromosome 15.
- Genetic Testing - anhidrotic ectodermal dysplasia with immunodeficiency (anhidrotic ectodermal dysplasia With inmunedeficiency) - Genes IKBKG I> and NFKBIA.
- Genetic Testing - Aniridia (Aniridia) - Gen PAX6 I>.
- Genetic Testing - Ankylosing spondylitis (ankylosing spondylitis) - Genes ERAP1, HLA-B, IL1A I> and IL23R.
- Genetic testing - Anomaly Peters (See Peters anomaly ...).
- Genetic testing - Anophthalmia - (See microphthalmia).
- Genetic Testing - Antiphospholipid Syndrome ..., (Antiphospholipid syndrome).
- Genetic Testing - Antithrombin, hereditary deficiency ..., (Hereditary antithrombin deficiency) - Gen SERPINC1.
- Genetic Testing - Aortic, types 1 and 2, valvular disease ..., (Aortic Valve Disease types 1 - AOVS1-, and 2 -AOVD2) - Genes NOTCH1 I> and SMAD6 I> .
- Genetic testing - Apert syndrome - FGFR2 gene.
- Genetic Testing - Aplasia muelleriana and hyperandrogenism (Müllerian aplasia and hyperandrogenism) - Gen WNT4.
- Genetic Testing - Aromatase deficiency ..., (Aromatase deficiency) - Gen CYP19A1.
- Genetic testing - Arrhythmogenic right ventricular cardiomyopathy - PKP2, CTNNA3, DES, DSC2, DSG2, DSP, JUP, LMNA, PLN, RYR2, TGFB3, TTN and TMEM43 genes.
- Genetic testing - arrhythmogenic right ventricular dysplasia (See arrhythmogenic right ventricular cardiomyopathy).
- Genetic Testing - arterial tortuosity syndrome ..., (Arterial tortuosity syndrome) - Gen SLC2A10 I>.
- Genetic Testing - Arteriosclerosis (Atherosclerosis) - Gen LPL.
- Genetic Testing - Distal arthrogryposis type 1 - TPM2 and MYBPC1 genes.
- Genetic Testing - Arthrogryposis distal type 2B; Sheldon syndrome-Hall (Distal arthrogryposis type 2B -DA2B-; Sheldon-Hall syndrome) - Genes MYH3, TNNI2, TNNT3 I> and TPM2 I>.
- Genetic Testing - Arts syndrome, (Arts syndrome) - Gen PRPS1
- Genetic testing - Asparagine synthetase deficiency – ASNS gene.
- Genetic Testing - asphyxiating thoracic dystrophy (asphyxiating thoracic dystrophy) - Genes CEP120, CSPP1, DYNC2H1, IFT80, IFT140, IFT172, TTC21B, WDR19, WDR34, WDR35 I> and WDR60 I> ..
- Genetic testing - Ataxia-pancytopenia syndrome - SAMD9L gene.
- Genetic Testing - Ataxia-telangiectasia; Louis-Bar syndrome) (Ataxia telangiectasia syndrome) - Gen ATM I>.
- Genetic testing - Ataxia with oculomotor apraxia - APTX, SETX and PNKP genes.
- Genetic Testing - ataxia with Vitamin E deficiency (ataxia with Vitamin E deficiency) - Gen APTT I>.
- Genetic Testing - ataxic neuropathy spectrum ..., (Ataxia neuropathy spectrum) - Genes POLG I> and C10orf2 I>.
- Genetic Testing - Atelosteogenesis Type 1 (type 1 atelosteogenesis) - Gen FLNA.
- Genetic Testing - Atelostogénesis type 2 (atelosteogenesis type 2) - Gen DTDST I> (= SLC26A2 I>).
- Genetic Testing - Atelostogénesis type 3 (atelosteogenesis type 3) - Gen FLNB.
- Genetic testing - Atopic dermatitis - CARD11 and FLG genes.
- Genetic Testing - Familial atrial fibrillation - KCNQ1, KCNE2 and KCNJ2 genes.
- Genetic Testing - Atrophy dentatorubro-pallidoluysian (Dentatorubral-pallidoluysian Atrophy -DRPLA-) - Gen ATN1 I>.
- Genetic Testing - Atrophy espinopontina (See Spinocerebellar ataxia type 3).
- Genetic Testing - Atrophy hereditary neuralgic (neuralgic amyotrophy Hereditary) - Gen SEPT9 I>.
- Genetic Testing - Atrophy spinobulbar Kennedy (bulbar muscular atrophy Spinal and - Kennedy Disease-) - Gen AR <(I>.
- Genetic Testing - Optic atrophy type 1 - OPA1 gene.
- Genetic Testing - atypical hemolytic uremic syndrome ..., (Atypical hemolytic uremic syndrome-) - Genes CFH, CFI, CD46, C3, CFB, CFHR5 I> and THBD I>.
- Genetic testing - Au-Kline syndrome – HNRNPK gene.
- Genetic testing - Austin syndrome ... (See Multiple sulfatase deficiency ...).
- Genetic testing - Autoimmune lymphoproliferative syndrome – FAS and FASLG genes
- Genetic Testing - Autoinflammatory cold induced syndrome ..., (See familial cold urticaria).
- Genetic Testing - autonomous hereditary sensory neuropathy and type V (Hereditary sensory and autonomic neuropathy type V -HSAN5-) - Gen NGF I>.
- Genetic testing - autosomal dominant Deafness (Autosomal dominant deafness) (See macrothrombocytopenia and progressive deafness syndrome ...).
- Genetic Testing - autosomal dominant hypocalcemia, types 1 and 2 (Autosomal Dominant Hypocalcemia) - Genes CASR I> and GNA11.
- Genetic Testing - autosomal dominant hypophosphatemic Rickets -ADHR-; Hypophosphatemia (See hereditary hypophosphatemic rickets).
- Genetic testing - Autosomal dominant optic atrophy and cataract - OPA3 gene.
- Genetic Testing - autosomal dominant polycystic kidney and autosomal recessive, disease ..., Polycystic Kidney (Autosomal dominant and autosomal recessive polycystic kidney disease and ARPKD- -ADPKD) - Genes PKD1, PKD2 I> and I> PKHD1 < / I>.
- Genetic Testing - autosomal recessive congenital methemoglobinemia (Autosomal recessive congenital methemoglobinemia) - Gen CYB5R3.
- Genetic testing - Autosomal recessive hyper-IgE syndrome - DOCK8 gene.
- Genetic testing - Autosomal recessive optic atrophy type 3; Costeff syndrome ..., - OPA3 gene.
- Genetic testing - autosomal recessive polycystic kidney, disease ... (Autosomal Recessive Polycystic Kidney Disease) (See polycystic kidney, disease ...).
- Genetic Testing - autosomal recessive primary microcephaly (Autosomal Recessive primary microcephaly) - Gen ASPM.
- Genetic Testing - axonal neuropathy with neuromyotonia autosomal recessive (Autosomal recessive axonal neuropathy With neuromyotonia) - Gen HINT1 I>.
- Genetic testing - Azores, Neurological Disease ... (See spinocerebellar ataxia type 3).
- Genetic Testing - Baller-Gerold syndrome ..., (Baller-Gerold syndrome) - Gen RECQL4.
- Genetic Testing - Bannayan-Riley-Ruvalcaba syndrome ..., (Bannayan-Riley-Ruvalcaba Syndrome) - Gen PTEN I>.
- Genetic Testing - Baraitser-Winter syndrome ..., (Baraitser-Winter syndrome) - Genes ACTB I> and ACTGI.
- Genetic testing - Bare lymphocyte syndrome type I; HLA class I deficiency - TAP1, TAP2 and TAPBP genes.
- Genetic testing - Bare lymphocyte syndrome type II; HLA class II deficiency - CIITA, RFX5, RFXANK and RFXAP genes
- Genetic Testing - Bart-Pumphrey syndrome ..., (Bart-Pumphrey syndrome) - Gen GJB2.
- Genetic Testing - Barth syndrome ..., (Barth syndrome) - Gen TAZ.
- Genetic testing - Bassen-Kornzweig syndrome ... (See Abetalipoproteinemia).
- Genetic testing - Beals-Hecht syndrome ... (arachnodactyly contractural Congenital syndrome) - (See Arachnodactyly contractural congenital syndrome ...).
- Genetic Testing - Beare-Stevenson cutis gyrata I>, ... Syndrome, (Beare-Stevenson cutis gyrate syndrome) - Gen FGFR2 I>.
- Genetic testing - Becker, disease ... (See myotonia congenita, Thomsen disease and Becker) (congenital Myotonia, Thomsen disease and Becker disease).
- Genetic testing - Becker muscular dystrophy ... and Duchenne muscular dystrophy (See Duchenne muscular dystrophy and Becker muscular dystrophy).
- Genetic Testing - benign familial neonatal epilepsy (Benign familial neonatal seizures -BFNS-) - Genes KCNQ2 I> and KCNQ3.
- Genetic Testing - benign hereditary chorea (Bening Chorea hereditary) - Gen NKX2-1.
- Genetic Testing - benign recurrent intrahepatic cholestasis type 1 and 2 (BRIC: Benign recurrent intrahepatic cholestasis types 1 and 2 -BRIC1 and BRIC2-) - Genes ABCB11 I> and ATP8B1 <(/ I>.
- Genetic testing - Bernard-Soulier syndrome ...; Hemorrhagic thrombocyte dystrophy - GP1BA, GP1BB and GP9.
- Genetic Testing - Beta-hydroxysteroid dehydrogenase deficiency 3 -... (3-hydroxysteroid dehydrogenase deficiency beta) - Gen HSD3B2 I>.
- Genetic testing - Beta-thalassemia intermedia and Beta-thalassemia major - HBB gene.
- Genetic Testing - Beta-ureidopropionase, deficiency ..., (Beta-ureidopropionase deficiency) - Gen UPB1 I>.
- Genetic testing - Betahydroxysteroid dehydrogenase 3 deficiency, 17 ..., – HSD17B3 gene.
- Genetic Testing - Bethlem myopathy (See myopathy related to type VI collagen).
- Genetic Testing - Bietti's crystalline dystrophy (Bietti crystalline dystrophy) - Gen CYP4V2 I>.
- Genetic Testing - Bile acids types 1 and 2, congenital defect synthesis ..., (Congenital bile acid synthesis defect types 1 and 2) - Genes HSD3B7 I> and AKR1D1 I> .
- Genetic Testing - Bipolar Disorder (bipolar disorder).
- Genetic Testing - Birk-Barel intellectual disability with dimorphism syndrome ..., (Barel Birk-Mental Retardation Syndrome Dymorphism -BIBAS-) - Gen KCNK9 I>.
- Genetic testing - Blau syndrome; Systemic juvenile familial granulomatosis - NOD2 gene.
- Genetic testing - Blepharocheilodontic syndrome; Elschnig Syndrome - CDH1 and CTNND1 genes.
- Genetic Testing - Blepharophimosis, Ptosis, reverse epicanto syndrome ..., (Blepharophimosis, ptosis and epicanthus inversus syndrome -BPES-) - Gen FOXL2 I>.
- Genetic testing - Bloch-Siemens-Sulzberger syndrome ... (See Incontinentia pigmenti) ..
- Genetic Testing - Bloom syndrome ..., (Bloom syndrome) - Gen BLM I>.
- Genetic testing - Body Angiokeratoma diffuse (See Fabry disease ...).
- Genetic testing - Bohring-Opitz syndrome - ASXL1 gene.
- Genetic Testing - Boomerang dysplasia (Boomerang dysplasia) - Gen FLNB.
- Genetic testing - BOR syndrome ... (See Branchiura-Oto-Renal Syndrome).
- Genetic Testing - Borjeson-Forssman-Lehmann syndrome ..., (Borjeson-Forssman-Lehmann Syndrome -BFLS-) - Gen PHF6 I>.
- Genetic testing - Bosma arhinia microphthalmia syndrome - SMCHD1 gene.
- Genetic Testing - Boucher Neuhäuser syndrome ..., (Boucher-Neuhäuser syndrome) - Gen PNPLA6 I>.
- Genetic Testing - Bowen-Conradi Syndrome, ..., (Bowen-Conradi syndrome) - Gen EMG1.
- Genetic testing - BPES syndrome ... (See Blepharophimosis, ptosis and reverse epicanthus syndrome ...).
- Genetic testing - Brachydactyly type A1 - IHH.
- Genetic Testing - Brachydactyly type B1 (Brachydactyly type B1) - Gen ROR2.
- Genetic Testing - Bradiopsia (Bradyopsia) - Genes or RGS9BP RGS9.
- Genetic testing - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) – NOTCH3 gene.
- Genetic testing - Brain-lung-thyroid syndrome - Gen NKX2-1.
- Genetic Testing - Brain Transport folate deficiency ..., (Cerebral folate transport deficiency) - Gen FOLR1.
- Genetic Testing - Branchiura-oto-renal -BOR- syndrome ..., (Branchiootorenal syndrome) - Genes EYA1 SIX1 I> and SIX5 I>.
- Genetic Testing - breast and ovarian cancer (Breast and ovarian cancer) - Genes BRCA1 I> and BRCA2 I>.
- Genetic Testing - Breast cancer (Breast cancer) - Genes ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, CTLA4, CYP19A1, FGFR2, H19, LSP1, MAP3K1, MRE11A, NBN, PALB2, PTEN , RAD51, RAD51C, STK11, TERT, TOX3, TP53, XRCC2 I> and XRCC3 I>.
- Genetic Testing - Brody myopathy (Brody myopathy) - Gen ATP2A1.
- Genetic testing - Bronze-Schilder disease ... (See X-linked adrenoleukodystrophy)
- Genetic Testing - Bruck syndrome type 2 (Bruck syndrome type 2) - Gen PLOD2.
- Genetic testing - Bruck type 1 syndrome ..., - FKBP10 gene.
- Genetic Testing - Brugada syndrome ..., (Brugada Syndrome) - Genes SCN5A, GPD1L, CACNA1C, CACNA2D1, CACNB2, HCN4, KCND3, KCNE3, KCNE5, KCNJ8, RANGRF, SCN1B, SCN2B, SCN3B, SLMAP < / I> and TRPM4 I>.
- Genetic Testing - Bruton agammaglobulinemia (See Immunodeficiency Type 1).
- Genetic Testing - bullous ichthyosiform erythroderma; Epidermolytic hyperkeratosis (Epidermolytic hyperkeratosis; Bullous erythroderma ichthyosiforme) - Genes KRT1 I> and KRT10.
- Genetic Testing - Burn-McKeown syndrome ..., (Burn-McKeown syndrome) - Gen TXNL4A I>.
- Genetic testing - Buschke-Ollendorff syndrome (Dermatofibrosis lenticularis disseminata) - LEMD3 gene.
- Genetic testing - Byler's Disease ... (See rogresiva intrahepatic cholestasis type 1; PFIC1: Progressive Familial Intrahepatic cholestasis type 1).
- Genetic Testing - C1 inhibitor -C1INH-, deficiency ..., (See Angioedema types I, II and III).
- Genetic testing - CADASYL (Cerebral Autosomal-Dominant Arteriopathy With subcortical Infarcts and Leukoencephalopathy) (See arteriopathy with subcortical cerebral infarcts and leukoencephalopathy, autosomal dominant).
- Genetic testing - Caffey disease - COL1A1 gene.
- Genetic testing - CAKUT (Congenital anomalies of the kidney and urinary tract) (see Congenital anomalies of kidneys and urinary tract).
- Genetic testing - Camurati-Engelmann disease - TGFB1 gene.
- Genetic Testing - Cancer cell lung (NSCLC: Non Small Cell Lung Cancer) - Gen EGFR I>.
- Genetic Testing - Carbamyl phosphate synthetase I, ... deficiency; Congenital hyperammonemia type I (Carbamoyl phosphate synthetase I deficiency, Congenital hyperammonemia type I) - Gen CPS1 I>.
- Genetic Testing - Carbonic Anhydrase VA, deficiency ..., (Carbonic anhydrase deficiency VA) - Gen CA5A I>.
- Genetic Testing - cardiofaciocutaneous Cutaneous syndrome ..., - (Cardiofaciocutaneous syndrome) - Genes BRAF, KRAS, MAP2K1 I> and map2k2.
- Genetic testing - Carnevale syndrome ... (See MC syndrome 3 ...,).
- Genetic Testing - Carnitine Deficiency Primary ..., (Primary carnitine deficiency) - Gen SLC22A5 I>.
- Genetic testing-Carnitine palmitoyl transferase-I deficiency (CPTI) - CPT1A gene.
- Genetic testing - Carnitine palmitoyltransferase II deficiency (CPTII) - CPT2 gene.
- Genetic Testing - Carpenter syndrome ..., (Carpenter syndrome) - Genes RAB23 I> or MEGF8 I>.
- Genetic Testing - catecholaminergic polymorphic ventricular tachycardia - (catecholaminergic polymorphic ventricular tachycardia) - Genes RYR2 I> and CASQ2.
- Genetic testing - Caudal regression syndrome.
- Genetic testing - Cayler syndrome ... (See DiGeorge syndrome ...).
- Genetic testing - CDKL5 deficiency disorder; CDKL5 Epilepsy related disorder - CDKL5 gene.
- Genetic Testing - Central nucleus, disease ... (Central core disease) - Gen RYR1.
- Genetic Testing - central precocious puberty (Central precocious puberty) - Genes MKRN3, KISS1 I> and KISS1R I>.
- Genetic Testing - centronuclear myopathy (Centronuclear myopathy) - Genes DNM2, BIN1 I> and TTN I>.
- Genetic Testing - cephalopolysyndactyly Greig syndrome ... (Greig syndrome cefalopysyndactyly) - Gen GLI3 I> and chromosome 7.
- Genetic Testing - Cerebellar ataxia autosomal recessive -ARCA1- (cerebellar ataxia Autosomal recessive type 1 -ARCA1-) - Gen SYNE1.
- Genetic Testing - cerebellar hemangioblastoma (Cerebellar hemangioblastoma) - Gen VHL I>.
- Genetic Testing - Cerebral amyloid angiopathy (amyloid angiopathy Cerebral) - Gen APP I>.
- Genetic testing - Cerebral Pick´s Disease ..., (Frontotemporal dementia with parkinsonism-17) (See Frontotemporal dementias).
- Genetic testing - Cerebro-facio-thoracic dysplasia – TMCO1 gene.
- Genetic testing - cerebroretinal microangiopathy with calcifications - LCC- (See Coats plus syndrome ...).
- Genetic Testing - cerebrotendinous xanthomatosis; Van Bogaert-Scherer-Epstein, disease ..., (Cerebrotendinous xanthomatosis; Van Bogaert-Scherer-Epstein Disease) - Gen CYP27A1 I>.
- Genetic Testing - Chanarin Dorfman Syndrome, ..., (Chanarin Dorfman syndrome) - Gen ABHD5 I>.
- Genetic testing - Chapelle syndrome - (see Gonadal dysgenesis XX).
- Genetic testing - Charcot-Marie-Tooth disease - PMP22, MPZ, MFN2, GJB1 genes. Other genes.
- Genetic testing - Charcot-Marie-Tooth disease type 1C, disease ... (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 1F (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 2A2, disease ... (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 2B (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 2D (axonal), disease ... (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 2E, disease ... (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic Testing - Charcot-Marie-Tooth disease type 2F, disease ..., (Charcot-Marie-Tooth disease type 2F -CMT2F-) - Gen HSPB1 I>.
- Genetic testing - Charcot-Marie-Tooth disease type 2I / 2J (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 2K (See Charcot-Marie-Tooth type 1B, 2I, 2J, disease ...).
- Genetic Testing - Charcot-Marie-Tooth disease type 2L, disease ..., (Charcot-Marie-Tooth disease type 2L -CMT2L-) - Gen HSPB8 I>.
- Genetic testing - Charcot-Marie-Tooth disease type 4B1 (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 4C (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 4D, disease ... (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 4H (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type 4J (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth disease type X1, disease ... (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth type 3 (Dejerine-Sottas syndrome) (See Charcot-Marie-Tooth type 1B, 2I, 2J, disease ...).
- Genetic testing - Charcot-Marie-Tooth type 5 (See Charcot-Marie-Tooth disease type 1B, 2I, 2J, disease ...).
- Genetic testing - Chediak-Higashi syndrome ... (See Albinism ocular-cutaneous syndrome Chediak-Higashi).
- Genetic Testing - Cherubism (Cherubism) - Gen SH3BP2.
- Genetic testing - Childhood absence epilepsy (CAE) – CACNA1H, GABRA1, GABRB3, GABRG2 and JRK genes.
- Genetic Testing - Children Miocerebrohepatopatía, spectrum ..., -MCHS- (Childhood yocerebrohepatopathy spectrum -MCHS-) - Gen POLG.
- Genetic Testing - Children Spasmodic X-linked syndrome ..., (West syndrome ..., West Syndrome, X-linked infantile spasm syndrome) - Genes ARX I> and CDKL5 I>.
- Genetic Testing - cholangiocarcinoma (Cholangiocarcinoma).
- Genetic Testing - Cholesterol ester storage disease of ..., (Cholesterol ester storage disease) - Gen LIPA I>.
- Genetic Testing - chondrodysplasia punctata 1 X-linked (X-linked chondrodysplasia punctata 1) - Gen ASS I>.
- Genetic Testing - chondrodysplasia punctata 2 X-linked (X-linked chondrodysplasia punctata 2) - Gen EBP I>.
- Genetic Testing - chondrodysplasia punctata Rhizomelic types 1, 2 and 3 (rhizomelic chondrodysplasia punctata) - Genes PEX7, GNPAT I> and AGPS I>.
- Genetic Testing - CHOPS syndrome ..., (CHOPS syndrome: Cognitive impairment / Coarse facial features, Heart defects, Obesity, Pulmonary) - Gen AFF4 I>.
- Genetic Testing - Chordoma (chordoma) - Gen T I>.
- Genetic testing - Chorea-acanthocytosis - VPS13A gene.
- Genetic Testing - Chorea (Huntington Disease type types 1 to 4) (Huntington disease-like syndrome) - Genes PRNP, JPH3 I> and TBP I>.
- Genetic Testing - Christianson syndrome ..., (Christianson syndrome) - Gen SLC9A6 I>.
- Genetic testing - Christmas, disease ... (See Hemophilia A and B).
- Genetic testing - Chronic atrial and intestinal dysrhythmia - SGOL1 gene.
- Genetic Testing - chronic benign pemphigus; Hailey-Hailey disease (Benign chronic pemphigus) - Gen ATP2C1 I>.
- Genetic Testing - chronic eosinophilic leukemia associated with PDGFRA (PDGFRA-associated chronic eosinophilic leukemia) - Genes PDGFRA, FIP1L1 I> and chromosome 4.
- Genetic Testing - Chronic Granulomatous, disease ..., (chronic granulomatous disease) - Genes CYBA, CYBB, NCF1, NCF2 I> and neutrophil cytosolic factor 4 I>.
- Genetic Testing - Chronic Myelogenous Leukemia (Chronic myeloid leukemia) - Genes BCR, ABL1 I>, chromosome 9 and chromosome 22.
- Genetic Testing - Chronic myeloid leukemia -LMC-. Imatinib (Chronic myeloid leukemia -CML-) - Genes WT1 BCR ABL I>, chromosome 9, chromosome 17 and chromosome 22.
- Genetic Testing - chronic myelomonocytic leukemia -LMMC- (Chronic myelomonocytic leukemia -CMML-) - Genes RUNX1, PTPN11, USP16, HIP1, ASXL1 I> and JAK2 I>.
- Genetic Testing - chronic neutrophilic leukemia (Chronic neutrophilic leukemia -CNL-) - Genes JAK2 I> and CSF3R I>.
- Genetic testing - Chylomicron retention disease; Anderson´s disease - SAR1B gene.
- Genetic Testing - Citrulinemias types I and II (Citrullinemia) - Genes ASS1 and SLC25A13.
- Genetic testing - CLCN2-related leukoencephalopathy - CLCN2 gene.
- Genetic testing - CLCN2-related leukoencephalopathy; leukoencephalopathy with ataxia - CLCN2 gene.
- Genetic testing - Cleidocranial dysplasia - RUNX2 gene.
- Genetic Testing - CLN10, disease ..., (CLN10 disease) - Gen CTSD I>.
- Genetic Testing - Clopidogrel, resistance ..., (Clopidogrel resistance) - Gen CYP2C19 I>.
- Genetic Testing - Cloves syndrome ..., (Congenital lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Skeletal abnormalities or spinal -CLOVES- syndrome) - Gen PIK3CA I>.
- Genetic Testing - CoA hydratase methylglutaconyl-deficiency 3 -... (3-CoA hydratase methylglutaconyl-deficiency) - Gen AUH I>.
- Genetic Testing - Coast plus syndrome ..., (Coats plus syndrome) - Gen CTC1 I>.
- Genetic testing - Cockaine A syndrome ... (See arthrogryposis multiplex congenita).
- Genetic testing - Cockaine B syndrome ... (See arthrogryposis multiplex congenita).
- Genetic Testing - Cockayne syndrome ..., (Cockayne syndrome) - Genes ERCC6 I> and ERCC8 I>.
- Genetic Testing - COD-MD Syndrome ..., (See Walker-Warburg, Síndrtome of ...).
- Genetic Testing - Cofactor molybdenum deficiency ..., (Molybdenum cofactor deficiency) - Genes MOCS1, MOCS2 I> or GPHN I>.
- Genetic Testing - Coffin-Lowry syndrome ..., (Coffin-Lowry syndrome) - Gen RPS6KA3 I>.
- Genetic Testing - Cohen syndrome; Norio syndrome; Hypotonia-obesity syndrome - VPS13B gene
- Genetic testing - Cold-induced sweating syndrome - CRLF1 and CLCF1 genes.
- Genetic Testing - Cole, disease ... (Cole disease) - Gen ENPP1.
- Genetic testing - Coloboma.
- Genetic Testing - Colorectal cancer (Colorectal Cancer) - Gen BRAF I>.
- Genetic testing - Combined oxidative phosphorylation deficiency 1 - GFM1 gene.
- Genetic Testing - common variable immunodeficiency (common variable immune deficiency) - Gen TNFRSF13B I>.
- Genetic Testing - Complement Factor I (Complement factor I deficiency) - Gen CFI I>.
- Genetic testing - Complete plasminogen activator inhibitor 1 deficiency - SERPINE1 gene.
- Genetic testing - Cone-rod dystrophy - ABCA4,GUCY2D and CRX genes.
- Genetic Testing - Cones-S, Increased ..., Goldmann-Favre syndrome (Enhanced S-Cone syndrome, Goldmann-Favre syndrome) - Gen NR2E3.
- Genetic testing - Congenital anomalies of the kidney and urinary tract -CAKUT- PAX2, HNF1B, BMP4, DSTYK, EYA1, FRAS1, FREM1, FREM2, GREB1L, GRIP1, SALL1, SIX1, SIX2, SIX5, SOX17, TBX18 and WNT4 genes.
- Genetic testing - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - Gen CYP11B1
- Genetic Testing - Congenital adrenal hyperplasia (See hydroxylase deficiency of 21 -... (P450c21); Alfa-hydroxylase deficiency of17 -... (P450c11); Alfa-hydroxylase deficiency of 11 -... ( P450c17).
- Genetic Testing - congenital adrenal hypoplasia; Congenital adrenal hypoplasia X-linked (hypoplasia congenita Adrenal; X-linked adrenal hypoplasia congenita) - Gen DAX1 I> ( NROB1 I>).
- Genetic Testing - congenital agammaglobulinemia (See immunodeficiency type 1).
- Genetic testing - Congenital bilateral absence of the vas deferens (CBAVD) - CFTR gene.
- Genetic Testing - congenital cataract, facial dysmorphism and neuropathy (Congenital cataracts, facial dysmorphism and neuropathy) - Gen CTDP1 I>.
- Genetic Testing - congenital central hypoventilation syndrome (Ondine; Síndome Haddad; Failure autonomic control) (central hypoventilation syndrome Congenital -CCHS-) - Gen PHOX2B, RET, EDN3, ASCL1, GDNF I> and BDNF I>.
- Congenital Chloride diarrhea, Congenital Chloride Losing Diarrhea, Finnish type - SLC26A3 gene.
- Genetic Testing - Congenital contractural Arachnodactyly; Beals-Hecht syndrome (Congenital contractural arachnodactyly syndrome, Beals-Hecht syndrome) - Gen FBN2 I>.
- Genetic Testing - Congenital Defect of bile acid synthesis types 1 and 2 (See Bile acids, congenital defect synthesis ...).
- Genetic testing - congenital erythropoietic porphyria - (See porphyrias).
- Genetic testing - Congenital fibrosis of the extraocular muscles – KIF21A, PHOX2A, TUBB3, or TUBB2B genes.
- Genetic testing - congenital generalized lipodystrophy (Berardinelli-Seip See syndrome ...; Lipodystrophy Berardinelli-Seip congenital).
- Genetic testing - Congenital generalized lipodystrophy – AGPAT2, BSCL2, CAV1> and CAVIN1 genes
- Genetic Testing - congenital hyperammonemia (See Carbamyl phosphate synthetase I deficiency ...).
- Genetic Testing - congenital hyperinsulinism (Congenital hyperinsulinism) - Genes ABCC8 I> and KCNJ11.
- Genetic Testing - congenital hypothyroidism (Congenital hypothyroidism) - Genes DUOX2, DUOXA2, IYD, NKX2-5, PAX8, SLC5A5, SLC26A4, TG, THRA, TPO, TRHR, TSHB I> and TSHR I>.
- Genetic testing - Nonbullous congenital ichthyosiform erythroderma - ABCA12, ALOX12B and ALOXE3 genes.
- Genetic Testing - Congenital Melanocytic Nevus giant (Giant congenital melanocytic nevi) - Genes NRAS or BRAF.
- Genetic Testing - congenital myasthenic syndrome ..., (Congenital myasthenic syndrome) - Genes CHRNE, RAPSN, CHAT, ColQ I> and DOK7 I>.
- Genetic Testing - Congenital nephrotic syndrome ..., (Congenital nephrotic syndrome) - Genes NPHS1 I> and NPHS2 I>.
- Genetic testing - Coproporphyria hereditary (See porphyrias)
- Genetic testing - Cori, Disease ... (See Glocogenosis type III, Cori's disease).
- Genetic Testing - Corneal dystrophy type I (type I corneal dystrophy Lattice) - Gen TGFBI.
- Genetic Testing - corneal macular dystrophy type 1 and 2 (Macular dystrophy corneal type 1 and 2) - Gen CHST6.
- Genetic Testing - Corticosterone metiloxidasa types I and II, deficiency ... (See Aldosterone synthase types I and II, Deficiencies ...).
- Genetic Testing - Corticosterone metiloxidasa types I and II, deficiency ... (See Aldosterone synthase types I and II, deficiency ...).
- Genetic testing - Costeff syndrome – OPA3 gene.
- Genetic testing - Costeff syndrome ..., (See Autosomal recessive optical atrophy type 3).
- Genetic Testing - Costello syndrome ..., - (Costello syndrome) - Gen HRAS.
- Genetic Testing - craneoectodérmica Dysplasia (Cranioectodermal dysplasia) - Genes WDR35, IFT122, WDR19 or IFT43.
- Genetic Testing - craniofrontonasal Dysplasia X-linked (Craniofrontonasal syndrome, X-linked) - Gen EFNB1.
- Genetic testing - Craniometaphyseal dysplasia - ANKH and GJA1 genes. .
- Genetic Testing - CRASH syndrome ..., (Hydrocephalus X-linked syndrome MASA, familial spastic paraplegia Type 1, Agenesis of Corpus Callosum, X-linked syndrome L1) (CRASH Syndrome) - Gen L1CAM I >
- Genetic testing - Creuztfeldt-Jakob Disease ... (See Prion, Disease ...)
- Genetic Testing - Cri du chat syndrome ..., (Cri-du-chat syndrome) - Gen CTNND2 I> and chromosome 5.
- Genetic Testing - Crigler-Najjar syndrome - UGT1A1 gene.
- Genetic testing - Critical congenital heart disease.
- Genetic testing - Crohn´s disease - ATG16L1, IL23R, IRGM and NOD2. genes.
- Genetic Testing - Crouzon syndrome ..., (Crouzon syndrome) - Gen FGFR2 I>.
- Genetic Testing - Crouzon with acanthosis nigricans syndrome ..., (Crouzonodermoesquelético) (Crouzonodermoskeletal syndrome) - Gen FGFR3 I>.
- Genetic Testing - cryptogenic cirrhosis (Cryptogenic cirrhosis) - Genes KRT18 I> and KRT8 I>.
- Genetic Testing - Currarino syndrome ..., (Currarino syndrome) - Gen MNX1 I> (= HLXB9 I> ..
- Genetic testing - Cutaneous malignant melanoma - CDKN2A, CDK4, MC1R, BRAF and TRRAP genes.
- Genetic Testing - cutaneous porphyrias - (See porphyrias).
- Genetic testing - Cyclic neutropenia - ELANE gene.
- Genetic Testing - Cystic Fibrosis (Cystic fibrosis) - Gen CFTR I>.
- Genetic Testing - Cystinosis (Cystinosis) - Gen TSSC I>.
- Genetic Testing - Cystinuria (Cystinuria) - Genes SLC3A1 I> or SLC7A9 I>.
- Genetic testing - Cytochrome c oxidase deficiency - COA5, COX6B1, COX10, COX14, COX15, FASTKD2, LRPPRC, MT-CO1, MT-CO2, MT-CO3, SCO1, SCO2, SURF1, TACO1, APOPT1, COA3, COA6, COA7, COX5A, COX8A, COX20, PET100, PET117 genes and mitochondrial DNA
- Genetic Testing - Cytochrome P450 metabolism of drugs, ... Polymorphisms (Polymorphisms of cytochromes P450 and Drug methabolism) - Genes CYP2C9, CYP2C19 I> and CYP2D6 I>.
- Genetic Testing - Cytochrome P450 oxidoreductase deficiency ..., (Cytochrome P450 oxidoreductase deficiency) - Gen by I>.
- Genetic Testing - Czech Dysplasia (Czech dysplasia) - Gen COL2A1.
- Genetic Testing - Dandy-Walker syndrome ..., (Dandy -Walker syndrome) - Genes FOXC1, ZIC1 I> and ZIC4 >.
- Genetic testing - Danon, disease ... (See Glycogenoses type IIB).
- Genetic Testing - Darier-White, disease ..., follicular keratosis (Darier-White disease, keratosis follicularis) - Gen ATP2A2.
- Genetic Testing - Deafness and myopia syndrome ..., (Deafness and myopia syndrome) - Gen SLITRK6 I>.
- Genetic testing - Deafness, dystonia and optic neuronopathy syndrome; DDON syndrome; Mohr-Tranebjærg syndrome - TIMM8A gene.
- Genetic Testing - Deafness nonsyndromic (nonsyndromic hearing loss) - Genes hearing loss) - Genes GJB2, GJB6, STRC, KCNQ4, TECTA I> and POU3F4 I>.
- Genetic Testing - Deficit visual color (See Achromatopsia).
- Genetic testing - Dejerine-Sottas syndrome ... (See Charcot-Marie Tooth disease type 3).
- Genetic testing - Deletion 11p syndrome (See Potocki-Shaffer syndrome).
- Genetic testing - Deletion 11q terminal (See Jacobsen syndrome ...).
- Genetic Testing - Deletion 15q13.3; 15q13.3 microdeletion syndrome ... (15q13.3 microdeletion syndrome) - Chromosome 15.
- Genetic Testing - Deletion 19p13.13, ... syndrome (19p13.13 deletion syndrome) - Genes best2, CACNA1A, CALR, MAST1, NFIX I> and Chromosome 19.
- Genetic testing - Deletion 22q11.2 (See DiGeorge syndrome ...).
- Genetic Testing - Deletion 3p syndrome ..., (3p deletion syndrome) - Chromosome 3.
- Genetic testing - Dementia with Lewy bodies - SNCA, SNCB, GBA and APOE genes.
- Genetic Testing - DEND syndrome (See Diabetes mellitus persistent neonatal; Permanent Neonatal Diabetes Mellitus - PNDM-).
- Genetic Testing - Dent types 1 and 2, disease ..., (Dent disease types 1 and 2) - Genes CLCN5 I> and OCRL I>.
- Genetic testing - Dentinogenesis imperfecta - DSPP gene.
- Genetic Testing - Denys-Drash syndrome ..., (Denys-Drash syndrome) - Gen WT1 I>.
- Genetic Testing - Depletion hepatocerebral mitochondrial DNA Mpv17 related syndrome ..., (Mpv17 hepatocerebral-related mitochondrial DNA depletion syndrome) - Gen Mpv17 I>.
- Genetic Testing - Depletion mitocondial related DNA TK2, myopathic form (See myopathy mitochondrial DNA depletion related TK2).
- Genetic Testing - dermatofibrosarcoma protuberans (dermatofibrosarcoma protuberans) - Fusion of genes COL1A1 I> and PDGFB I>.
- Genetic Testing - desmosterolosis (desmosterolosis) - Gen DHCR24.
- Genetic Testing - Diabetes mellitus non-insulin dependent (See Diabetes mellitus type II).
- Genetic Testing - Diabetes mellitus permanent neonatal (Permanent neonatal diabetes mellitus-PNDM) - Genes ABCC8, KCNJ11 I> and INS.
- Genetic Testing - Diabetes mellitus transient neonatal 6q24 related (6q24-related transient neonatal diabetes mellitus) - Genes HYMAI, PLAGL1, ZFP57 I> and chromosome 6.
- Genetic testing - Diabetes type 2; Diabetes mellitus type II; Non-insulin-dependent diabetes mellitus.
- Genetic Testing - Diabetes MODY types 1 to 11 (Maturity Onset Diabetes of the Young) - Genes HNF4A, GCK, HNF1A, PDX1, TCF2, NEUROD1, KLF11, CEL, PAX4, INS, BLK I>
- Genetic testing - Diamond-Blackfan anemia; Erythrogenesis imperfecta - RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24 and RPS26 genes.
- Genetic Testing - diastrophic dysplasia (Diastrophic dysplasia) - Gen DTDST I> ( SLC26A2 I>.
- Genetic Testing - DICER1 syndrome ..., (DICER1 syndrome) - Gen DICER1 I>.
- Genetic Testing - DiGeorge syndrome ...; 22q11.2 deletion syndrome; VCFS; Shprintzen syndrome; Opitz syndrome; Cayler syndrome (DiGeorge syndrome; 22q11.2 deletion syndrome) - Genes COMT TBX1 I> and chromosome 22.
- Genetic Testing - dihydrolipoamide dehydrogenase deficiency of ..., (dihydrolipoamide dehydrogenase deficiency) - Gen DLD I>.
- Genetic Testing - dihydropyrimidinase, deficiency ..., (Dihydropyrimidinase deficiency) - Gen DPYS I>.
- Genetic testing - dihydropyrimidinase, deficiency ... (See fluorouracil toxicity 5 -...).
- Genetic Testing - dihydropyrimidine dehydrogenase deficiency of ..., (dihydropyrimidine dehydrogenase deficiency) - Gen DPYD I>.
- Genetic Testing - Dilated cardiomyopathy family (Familial dilated cardiomyopathy) - Gen TTN, ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, EYA4, GATAD1, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7 > and others ..
- Genetic Testing - Dilated cardiomyopathy with ataxia syndrome ..., (Dilated cardiomyopathy With ataxia syndrome) - Gen DNAJC19.
- Genetic Testing - Disproportionation fibrous congenital type (fiber-type disproportion Congenital) - Genes ACTA1, MYH7, RYR1, TPM2 I> and TPM3 I>.
- Genetic testing - Distal 18q deletion syndrome - TCF4 and TSHZ1 genes, and Chromosome 18
- Genetic Testing - Distal myopathy related CAV3 (CAV3-related distal myopathy) - Gen CAV3.
- Genetic Testing - distal renal tubular acidosis with deafness syndrome ..., (Renal tubular acidosis With deafness syndrome) - Genes ATP6V0A4 I> and ATP6V1B1 I>.
- Genetic testing - Distasia arreflexiva Roussy-Levi (See Charcot-Marie-Tooth).
- Genetic testing - DNMT3A overgrowth syndrome; Tatton-Brown-Rahman, Síndrome …, - DNMT3A gene.
- Genetic testing - DOCK8 immunodeficiency syndrome – DOCK8 gene.
- Genetic Testing - Donnai-Barrow syndrome ..., (Donnai-Barrow syndrome) - Gen LRP2.
- Genetic Testing - Donohue syndrome ...,; (Donohue syndrome) - Gen INSR.
- Genetic testing - DOORS Syndrome - TBC1D24 gene.
- Genetic Testing - Dopamine deficiency dopamine transporter syndrome ..., (Dopamine transporter deficiency syndrome) - Gen SLC6A3 I>.
- Genetic testing - Dowling-Degos disease - KRT5, POFUT1, POGLUT1 and PSENEN genes.
- Genetic testing - Dravet syndrome ... (See severe infantile myoclonic epilepsy).
- Genetic testing - Dubin-Johnson syndrome; Chronic idiopathic jaundice - ABCC2 gene.
- Genetic testing - Duchenne and Becker muscular dystrophy ... (See Duchenne muscular dystrophy and Becker muscular dystrophy).
- Genetic Testing - Duchenne muscular dystrophy and Becker muscular dystrophy (Duchenne and Becker muscular dystrophy) - Gen DMD I>.
- Genetic testing - Duncan, disease ... (See X-linked lymphoproliferative).
- Genetic Testing - Duplication 16p11.2 (16p11.2 duplication) - Chromosome 16.
- Genetic testing - 7q11.23 duplication syndrome; Somerville-Van der Ara syndrome - ELN, GTF2I genes and chromosome 7 - ELN and GTF2I genes and chromosome 7.
- Genetic testing - Dupuytren´s contracture) - C8orf34, EPDR1, RSPO2, SFRP4, SULF1, WNT2, WNT4 and Wnt7b.
- Genetic Testing - dyserythropoietic anemia type I and II (Congenital dyserythropoietic anemia types I and II) - Genes CDAN1 I> and SEC23B.
- Genetic Testing - dyskeratosis congenita types DKCA1, DKCB1, DKCA2, DKCB2, DKCA3, DKCB3, DKCA4, DKCB4, DKCA5, DKCB5, DKCX (dyskeratosis congenita) - Genes TERT, TERC, DKC1, TINF2, Nop10, NHP2, Wrap53 and RTEL1.
- Genetic Testing - dysostosis spondylothoracic (spondylothoracic dysostosis) - Gen MESP2 I>.
- Genetic testing - Dysplasia Campomelic (See Campomelia).
- Genetic Testing - Dysplasia cigoauromandibular (Treacher Collins syndrome ..., Treacher Collins Franceschetti-syndrome ..., Franceschetti-Zwahlen-Klein syndrome ..., mandibulofacial dysostosis -MFD1-) (See Treacher Collins syndrome).
- Genetic Testing - Dysplasia espondiloperiférica (Spondyloperipheral dysplasia) - Gen COL2A1.
- Genetic Testing - Dysplasia otoespondilomegaepifisaria -OSMED- (Otospondylomegaepiphyseal dysplasia -OSMED-) - Gen COL11A2 I>.
- Genetic Testing - Dysplasia SADDAN (SADDAN, severe achondroplasia with developmental delay and acanthosis nigricans) - Gen FGFR3 I>.
- Genetic testing - Dystonia 16 - PRKRA gene.
- Genetic Testing - dystonia parkinsonism Quick Start (Rapid onset dystoniaparkinsonism) - Gen ATP1A3.
- Genetic Testing - dystrophic epidermolysis bullosa, autosomal recessive and autosomal dominant (epidermolysis bullosa Recessive Dystrophic -RDEB-) - Gen COL7A1 I>.
- Genetic Testing - early infantile epileptic encephalopathy 9 (EIEE9: Early Infantile Epileptic Encephalopathy) - Gen PCDH19.
- Genetic testing - Epileptic encephalopathy, early infantile X-linked; West Syndrome - ARX gene.
- Genetic Testing - early Myopathy fatal cardiomyopathy (Early-onset myopathy With fatal cardiomyopathy) - Gen TTN I>.
- Genetic testing - Early-Onset Alzheimer´s Disease - Genes APP, PSEN1 or PSEN2.
- Genetic testing - ectodermal dysplasia Hidrotic (See Clouston syndrome ...).
- Genetic testing - ectodermal dysplasia (See EEC, Electrodactilia and cleft lip / palate syndrome ...).
- Genetic Testing - ectodermal dystrophy, candidiasis, autoimmune polyendocrinopathy -APECED- (Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy--APECED-) - Gen AIR I>.
- Genetic Testing - Ectopic isolated lens (Isolated ectopia lentis) - Genes or ADAMTSL4 FBN1.
- Genetic Testing - EEC (Electrodactilia, ectodermal dysplasia and Lip / Cleft Palate) syndrome ..., (Ectrodactyly, ectodermal dysplasia, clefting -EEC-, syndrome) - Gen TP63 I>.
- Genetic testing - Ehlers-Danlos syndrome - ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1 and TNXB genes.
- Genetic testing - elastic Pseudoxanthoma (See elastic Pseudoxanthoma).
- Genetic testing - Electrodactilia (See EEC, ectodermal dysplasia and cleft lip / palate syndrome ...).
- Genetic testing - Elliptocytosis type 2 (EL2) - SPTA1 gene.
- Genetic Testing - Elliptocytosis type 3 (elliptocytosis 3 -EL3-) - Gen SPTB.
- Genetic Testing - Ellis-van Creveld syndrome ..., (Ellis-van Creveld syndrome) - Genes or EVC2 EVC.
- Genetic Testing - Emery-Dreifuss Muscular Dystrophy (Emery-Dreiffus muscular dystrophy) - Genes EMD, FHL1 and LMNA.
- Genetic Testing - Encephalopathy familiar with neuroserpin inclusion bodies (Familial encephalopathy With neuroserpin inclusion bodies -FENIB-) - Gen SERPINI1.
- Genetic Testing - Eosinophil peroxidase, deficiency ..., (Eosinophil peroxidase deficiency) - Gen EPX I>.
- Genetic Testing - Epidermal Nevus (Epidermal Nevus) - Genes FGFR2, FGFR3, HRAS, KRAS, NRAS I> and PIK3CA I>.
- Genetic Testing - Epidermolysis bullosa simplex (Epidermolysis bullosa simplex) - Genes KRT5, KRT14 or CELP.
- Genetic testing - Epidermolysis bullosa with pyloric atresia - ITGA6, ITGB4 and PLEC.
- Genetic Testing - epidermolytic palmoplantar keratoderma (palmoplantar keratoderma Epidermolytic) - Genes KRT9 I> and KRT1.
- Genetic Testing - Epilepsy-aphasia spectrum ..., (Epilepsy-aphasia spectrum) - Gen GRIN2A I>.
- Genetic Testing - epilepsy with febrile seizures generalized (Generalized epilepsy febrile seizures With) - Gen GABRG2.
- Genetic Testing - Episodic Ataxia Type 1, 2, 5 and 6 (Episodic ataxia types 1, 2, 5 and 6) - Genes KCNA1, CACNA1A, CACNB4 I> and SLC1A3.
- Genetic testing - Epstein syndrome ... (See macrothrombocytopenia and progressive deafness).
- Genetic Testing - Erdheim-Chester disease ..., (Erdheim-Chester disease) - Gen BRAF.
- Genetic testing - Erythrokeratodermia variabilis et progressiva - GJB3, GJB4, GJA1 and KRT83 genes
- Genetic Testing - Erythromelalgia (Erythromelalgia) - Gen SCN9A I>.
- Genetic Testing - Esophageal atresia tracheoesophageal fistula-(Esophageal atresia / tracheoesophageal fistula).
- Genetic Testing - Essential Blepharospasm Benign (Benign essential blepharospasm) - Genes DRD5 I> and TOR1A.
- Genetic Testing - essential Pentosuria (Essential pentosuria) - Gen DCXR.
- Genetic Testing - Essential thrombocytosis -Trombocitemia essentially (Essential thrombocythemia) - Genes CALR, JAK2, MPL, TET2 I> and THPO.
- Genetic Testing - Ethylmalonic encephalopathy - ETHE1 gene.
- Genetic Testing - Ewing's sarcoma (Ewing sarcoma) - Genes EWSR1 I> and FLI1 I>.
- Genetic testing - Fabry disease ... Angiokeratoma diffuse body; Deficiency alpha-galactosidase A (Fabry disease, Angiokeratoma corporis diffusum, alpha-galactosidase A deficiency) - Gen GLA I> ..
- Genetic Testing - Factor 8 complement deficiency ..., (Complement component deficiency 8) - Genes C8A I> or C8B I>.
- Genetic testing - Factor II deficiency ... (See prothrombin deficiency ...; Prothrombin deficiency).
- Genetic Testing - Factor IX deficiency of ..., (See Hemophilia A and B).
- Genetic testing - Factor V Leiden (See Thrombophilia by factor V Leiden).
- Genetic Testing - Factor VII coagulation deficiency ..., (Factor VII deficiency) - Gen F7 I>.
- Genetic Testing - Factor VIII and IX coagulation deficiency ..., (See Hemophilia A and B).
- Genetic Testing - Factor VIII deficiency, ..., (See Hemophilia A and B).
- Genetic Testing - Factor X coagulation deficiency ..., (Factor X deficiency) - Gen F10 I>.
- Genetic testing - Factor XI deficiency; Rosenthal disease; PTA deficiency - F11 gene
- Genetic Testing - Factor XII coagulation deficiency ..., (Factor XII deficiency) - Gen F12 I>.
- Genetic testing - Factor XIII deficiency - F13A1 and F13B genes
- Genetic testing - failure of autonomic control (Congenital failure of autonomic control) (See hypoventilation Congenital Central).
- Genetic Testing - familial adenomatous polyposis (Familial adenomatous polyposis) - Genes APC I> and MUTYH I>.
- Genetic testing - familial amyloidotic polyneuropathy (FAP) (See amyloidosis trastirretina).
- Genetic testing - Familial candidiasis - CARD9, IL17RC, STAT1, CLEC7A, IL17F, IL17RA, RORC and TRAF3IP2.
- Genetic Testing - familial cold urticaria (familial cold Autoinflammatory Syndrome ...,) (Familial cold autoinflammatory syndrome) - Genes NLRP3 I> and NLRP12.
- Genetic Testing - familial cylindromatosis syndrome ..., (Familial cylindromatosis) - Gen CYLD I>.
- Genetic Testing - familial dysautonomia (Familial dysautonomia) - Gen IKBKAP.
- Genetic testing - Familial hemiplegic migraine - CACNA1A, ATP1A2, SCN1A and PRRT2 genes .
- Genetic Testing - familial hypertrophic cardiomyopathy (Familial hypertrophic cardiomyopathy) - Genes MYH7, MYBPC3, TNN2 TNNI3 I> and others.
- Genetic Testing - Familial Mediterranean fever (Familial Mediterranean fever) - Genes MEFV I> and SAA1 I>.
- Genetic testing - Familial paroxysmal nonkinesigenic dyskinesia - PNKD gene.
- Genetic Testing - familial partial lipodystrophy (Familial partial lipodystrophy) - Genes ADRA2A, AKT2, CIDEC, LIPE, LMNA, PLIN1 I> and PPARG I>.
- Genetic testing - Familial restrictive cardiomyopathy - TNNI3, ACTC1, MYH7 and TNNT2 genes.
- Genetic Testing - familial spastic paraparesis (SPG: Spastic Paraplegia) types. (See spastic paraplegia).
- Genetic Testing - familial spastic paraplegia 3A (Spastic paraplegia 3A type -SPG3A) type - Gen ATL1 I>.
- Genetic Testing - familial spastic paraplegia type 1 (See CRASH syndrome ..., MASA syndrome, Agenesis of Corpus Callosum, X-linked Hydrocephalus).
- Genetic Testing - familial spastic paraplegia type 11 (Spastic paraplegia type 11 -SPG11-) - Gen SPG11.
- Genetic Testing - familial spastic paraplegia type 15 (Spastic paraplegia type 15 -SPG15-) - Gen ZFYVE26.
- Genetic Testing - familial spastic paraplegia type 4 (Spastic paraplegia type 4 -SPG4-) - Gen SPAST I>.
- Genetic Testing - familial spastic paraplegia type 6 (Spastic paraplegia type 6 -SPG6-) - Gen NIPA1 I>.
- Genetic Testing - familial spastic paraplegia type 7 (Spastic paraplegia type 7 -SPG7-) - Gen SPG7.
- Genetic Testing - familial spastic paraplegia type 8 (Spastic paraplegia type 8 -SPG8-) - Gen KIAA0196.
- Genetic Testing - family acute myeloid leukemia with mutation CEBPA (Familial acute myeloid leukemia With mutated CEBPA) - Gen CEBPA I>.
- Genetic Testing - family Glucocorticoids, deficiency ..., (Familial glucocorticoid deficiency) - Genes MC2R, MRAP I> and NNT I>.
- Genetic Testing - family hyperaldosteronism types I and III (Familial hyperaldosteronism types I and III) - Genes CYP11B1, CYP11B2 I> and KCNJ5.
- Genetic Testing - family hypobetalipoproteinemia (Familial hypobetalipoproteinemia -FHBL-) - Genes APOB I> and ANGPTL3 I>.
- Genetic testing - Family thrombocytopenic purpura (See Thrombocytopenia purpura family Purpuric).
- Genetic testing - Family vermis aplasia (See Joubert syndrome ...).
- Genetic Testing - Fanconi anemia (Fanconi anemia) - Genes FANCA, FANCC, FANCG, FANCB, FANCD2, FANCE, FANCF, FANCT, FANCL, FANCM I> and PALB2 I>
- Genetic Testing - Fanconi-Bickel syndrome ..., (Fanconi-Biickel Syndrome) - Gen SLC2A2.
- Genetic Testing - Farber lipogranulomatosis (Farber lipogranulomatosis) - Gen ASAH1.
- Genetic testing - Fatty acid hydroxylase-associated neurodegeneration (FAHN) - FA2H gene
- Genetic testing - Fechtner syndrome ... (See macrothrombocytopenia and pogresiva deafness).
- Genetic testing - Feingold syndrome - MYCN or MIR17HG genes.
- Genetic Testing - fibrochondrogenesis (Fibrochondrogenesis) - Genes COL11A1 I> and COL11A2 I>.
- Genetic Testing - fibrodysplasia ossificans progressiva (Fibrodysplasia ossificans progressive) - Gen ACVR1.
- Genetic testing - Fibromyalgia.
- Genetic testing - Fletchner syndrome ... (See macrothrombocytopenia and progressive deafness).
- Genetic Testing - Floating-Harbor syndrome ..., (Floating Harbor syndrome) - Gen SRCAP
- Genetic Testing - Fluorouracil, 5- ... toxicity; Dihydropyrimidinase deficiency; Dihydropyrimidine dehydrogenase deficiency (Dihydropyrimidinase deficiency; dihydropyrimidine dehydrogenase deficiency) - Genes DPYS I> and DPYD I>.
- Genetic Testing - focal dermal hypoplasia (Focal dermal hypoplasia) - Gen PORCN.
- Genetic Testing - focal palmoplantar keratoderma (palmoplantar keratoderma Focal) - Genes or KRT16 KRT6C.
- Genetic Testing - FOXG1 syndrome ..., (FOXG1 syndrome) - Gen FOXG1 I> and chromosome 14.
- Genetic Testing - Fragile X Syndrome ..., (fragile x syndrome) - Gen FMR1 I>.
- Genetic Testing - Franceschetti-Zwahlen-Klein syndrome ..., (Treacher Collins syndrome ..., Treacher Collins Franceschetti-syndrome ..., mandibulofacial dysostosis -MFD1-; cigoauromandibular Dysplasia) (See Treacher Collins syndrome ..., ).
- Genetic Testing - Fraser syndrome ..., (Fraser syndrome) - Genes FRAS1, FREM2 or GRIP1.
- Genetic Testing - Frasier syndrome ..., (Frasier syndrome) - Gen WT1 I>.
- Genetic Testing - FRDA (Friedreich ataxia) - Gen FXN I>.
- Genetic Testing - frontometaphyseal Dysplasia (Frontometaphyseal dysplasia) - Gen FLNA.
- Genetic Testing - frontonasal Dysplasia (Frontonasal dysplasia) - Genes ALX1, ALX3 I> and ALX4.
- Genetic Testing - Frontotemporal Dementia associated with amyotrophic lateral sclerosis (ALS-TDF: Amyotrophyc lateral sclerosis frontotemporal dementia associated With) (See frontotemporal dementias).
- Genetic Testing - Frontotemporal dementia related CHMP2B (frontotemporal dementia-related CHMP2B) - Gen CHMP2B.
- Genetic Testing - Frontotemporal dementia related granulin (GRN) (GRN-related frontotemporal dementia) - Gen GRN.
- Genetic Testing - Frontotemporal dementia with Parkinsonism-17 (FTDP-17 Frontotemporal dementia-parkinsonism With 17) (See frontotemporal dementias).
- Genetic testing - Fructose-1,6-bisphosphatase deficiency ( FBP1D) - FBP1 and FBP2 genes.
- Genetic testing - Fructosemia (Hereditary fructose Intolerance) - ALDOB gene.
- Genetic testing - Fructosemia (see Fructose intolerance).
- Genetic testing - Fuchs´ endothelial dystrophy - COL8A2 gene.
- Genetic testing - Fumarase deficiency - FH gene.
- Genetic testing - GABA-transaminase deficiency - ABAT gene.
- Genetic testing - Galactosemia types I, II and III - GALT, GALE and GALK1 genes.
- Genetic Testing - Galactosialidosis (Galactosialidosis) - Gen CTSA.
- Genetic Testing - gastrointestinal stromal tumor (GIST); Treatment with imatinib (See Imatinib: Imatinib: gastrointestinal stromal tumor treatment with imatinib.).
- Genetic Testing - Gaucher Disease ..., (Gaucher disease) - Gen GBA I>.
- Genetic Testing - generalized Arterial calcification of infancy (Generalized arterial calcification of infancy -GACI-) - Genes or ABCC6 ENPP1.
- Genetic testing - Genetic rearrangements (BCL2, BCL6, MYC, …, genes): Molecular diagnosis (PCR and sequencing).
- Genetic Testing - Giant axonal neuropathy (Giant axonal neuropathy) - Gen GAN I>.
- Genetic Testing - Gilbert syndrome ..., (Gilbert syndrome) - Gen UGT1A1.
- Genetic testing - Gillespie syndrome - ITPR1 gene.
- Genetic Testing - Gitelman syndrome ..., (Gitelman syndrome) - Genes SLC12A3 I> and CLCNKB.
- Genetic Testing - Glanzmann thrombasthenia (Glanzmann thrombasthenia) - Genes ITGA2B I> and ITGB3 I>.
- Genetic Testing - Glaucoma early onset (Early-onset glaucoma) - Genes MYOC I> and CYP1B1.
- Genetic Testing - Glaucoma pseudoexfoliation (pseudoexfoliation glaucoma) - Gen LOXL1.
- Genetic testing - Glicinuria (See methylbutyryl-CoA dehydrogenase deficiency 2- ...; methylbutyryl glicinuria, ... deficiency 2- (2-Methylbutyryl-CoA dehydrogenase deficiency; 2-Methylbutyryl glycinuria).
- Genetic Testing - Globozoospermia (Globozoospermia) - Gen DPY19L2.
- Genetic Testing - glomerulopathy by C3 (C3 glomerulopathy) - Genes ADAM19, C3, C3AR1, C8A, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR5, IFC I> and CR1 < / I>.
- Genetic Testing - glomerulopathy fibronectin (Fibronectin glomerulopathy) - Gen FN1.
- Genetic Testing - glucose-6-phosphate dehydrogenase deficiency, ..., (Glucose-6-phosphate dehydrogenase deficiency) - Gen G6PD.
- Genetic Testing - GLUT1 deficiency syndrome ..., (GLUT1 deficiency syndrome) - Gen SLC2A1 I>.
- Genetic testing - Glutaric acidemia type I - GCDH gene.
- Genetic Testing - glutaric acidemia type II (Glutaric acidemia type II) - Genes ETFa, ETFB I> and ETFDH I>.
- Genetic testing - glutaric aciduria (See glutaric acidemia type I and type II).
- Genetic Testing - glycine Encephalopathy (See nonketotic hyperglycinemia).
- Genetic Testing - Glycogen storage disease type III, Cori Disease (Glycogen storage sisease type III, Cori disease) - Gen AGL.
- Genetic Testing - Glycogenosis Type 0 (Glycogen storage disease type 0) - Genes GYS1 I> and GYS2.
- Genetic Testing - Glycogenosis Type Ia and Ib (GSD1, von Gierke disease) (Glycogen storage disease type Ia and Ib) - Genes G6PC I> and SLC37A4 I>.
- Genetic Testing - Glycogenosis Type II, Pompe disease (type II Glycogen storagen disease, Pompe disease) - Gen GAA I>.
- Genetic Testing - Glycogenosis Type IIB (Danon disease) - Gen LAMP2 I>.
- Genetic Testing - Glycogenosis Type IV, Andersen disease (Glycogen storage disease type IV, Andersen disease) - Gen GBE1.
- Genetic Testing - Glycogenosis Type IX (Glycogen storage disease type IX) - Genes PHKA1, PHKA2, PHKB I> and PHKG2 I>.
- Genetic Testing - Glycogenosis Type V, McArdle disease, muscular Glycogen phosphorylase (Glycogen storage disease type V, McArdle disease) - Gen PYGM I>.
- Genetic testing - Glycogenosis type VI; Glycogen storage disease type VI; Hers disease - PYGL gene.
- Genetic Testing - Glycogenosis Type VII, Tarui disease (Glycogen storage disease type VII, Tarui disease) - Gen PFKM.
- Genetic Testing - Glycogenosis Type X, phosphoglycerate mutase deficiency (Glycogen storage disease X, Phosphoglycerate mutase deficiency) - Gen PGAM2.
- Genetic testing - Glycogenosis type XI, Lactate dehydrogenase deficiency, Glycogen storage disease type XI) - LDHA and LDHB genes.
- Genetic testing - Glycosilation, DOLK-congenital disorder of glycosylation) - DOLK gene..
- Genetic testing - Glycosylation, SLC35A2-congenital disorder of glycosylation (before type IIm) - SLC35A2 gene.
- Genetic Testing - Glycosylation type Ia, congenital Alteration ..., (Congenital disorder of glycosylation type Ia) - Gen PMM2.
- Genetic Testing - Glycosylation type Ic, congenital Alteration ..., (Congenital disorder of glycosylation type Ic) - Gen ALG6.
- Genetic Testing - Glycosylation Type III, Impaired congenital ..., (Congenital disorder of glycosylation type III) - Gen COG5 I>.
- Genetic testing - Glycosylation types Ia, Ic, Ik, III (See each type: Glycosylation Type Ia, Ic, Ik, III, Impaired ...).
- Genetic Testing - GM1 gangliosidosis, types I, II and III (GM1 gangliosidosis, types I, II and III) - Gen GLB1.
- Genetic Testing - GM2 gangliosidosis, AB variant (GM2 gangliosidosis-AB variant) - Gen GM2A.
- Genetic Testing - GM3 synthase deficiency ..., (GM3 synthase deficiency) - Gen ST3GAL5.
- Genetic Testing - gnatodiafisaria Dysplasia (Gnathodiaphyseal dysplasia) - Gen Year5.
- Genetic Testing - Goldmann-Favre syndrome ..., (See Cones-S, Increased ...).
- Genetic testing - Gonadal dysgenesis XX; Chapelle syndrome; XX male - SRY gene.
- Genetic testing - Gonadal dysgenesis XY; Swyer syndrome - DHH, MAP3K1, NR5A1 and SRY genes.
- Genetic testing - Gordon Holmes syndrome - RNF216 and PNPLA6 genes
- Genetic testing - Gordon syndrome ... (See pseudohypoaldosteronism type 2).
- Genetic testing - Gorlin-Chaudhry-Moss syndrome – SLC25A24 gene.
- Genetic Testing - Gorlin syndrome ..., (See Nevoid Basal Cell Carcinoma, Gorlin syndrome, Gorlin syndrome, Nevoid basal cell carcinoma syndrome).
- Genetic testing - Grange syndrome – YY1AP1 gene.
- Genetic Testing - Gray Platelet Syndrome ..., (Gray platelet syndrome) - Gen NBEAL2.
- Genetic testing - Greig syndrome ... (See cephalopolysyndactyly Greig).
- Genetic testing - GRIN2B-related neurodevelopmental disorder – GRIN2B gene.
- Genetic testing - Groendblad-Strandberg syndrome ... (See Pseudoxanthoma elastic -PXE-).
- Genetic Testing - Growth Hormone, types IA, IB, II and III, isolated deficiency ..., (pituitary dwarfism) (Isolated growth hormone deficiency - IGHD-) - Genes BTK, GH1 I> and GHRHR I>.
- Genetic testing - GTP-cyclohydrolase I (GTPCH I) deficiency ..., Segawa disease, Dystonia 5 (DYT 5), dystonia Dopa-responsive - GCH1 gene.
- Genetic Testing - guanidinoacetate methyltransferase deficiency ..., (Guanidinoacetate methyltransferase deficiency) - Gen GAMT I>.
- Genetic testing - Haddad syndrome ... (Haddad syndrome) (See hypoventilation Congenital Central).
- Genetic testing - Hailey-Hailey disease ... (See chronic benign pemphigus).
- Genetic Testing - Hajdu Cheney syndrome ..., (Hajdu-Cheney syndrome) - Gen NOTCH2.
- Genetic testing - Hallervorden-Spatz disease ... (See pantotenatoquinasa associated neurodegeneration).
- Genetic testing - hamartomas, hamartoma tumor syndromes (PTEN) (See Bannayan-Riley-Ruvalcava syndrome ...; Cowden syndrome ...; Lhermitte-Duclos disease ...).
- Genetic Testing - Haplotype HLA-B 5701 (See Abacavir, Abacavir hypersensitivity).
- Genetic testing - HARD syndrome ... (See Walker-Warburg syndrome ...).
- Genetic Testing - HARP syndrome ..., (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa and pallidal degeneratios). (See neurodegeneration associated with pantotenatoquinasa).
- Genetic Testing - Hartnup Disease, ..., (Hartnup disease) - Gen SLC6A19 I>.
- Genetic Testing - Hartsfield syndrome ..., (Hartsfield syndrome) - Gen FGFR1 I>.
- Genetic testing - Hashimoto thyroiditis.
- Genetic Testing - Hay-Wells syndrome ..., Syndrome (ACS) (Hay-Wells syndrome) - Gen TP63 I>.
- Genetic testing - Hb Bart syndrome (See alpha thalassemia).
- Genetic testing - Hb H disease (see alpha thalassemia).
- Genetic Testing - Heart block progressive family (Progressive familial heart block) - Genes SCN5A I> and TRPM4.
- Genetic testing - X-linked cardiac valvular dysplasia - FLNA gene.
- Genetic testing - HELLP syndrome (See Preeclampsia).
- Genetic Testing - Hemoglobin (See methemoglobinemia, type beta-globin).
- Genetic Testing - hemophagocytic lymphohistiocytosis family (Familial hemophagocytic lymphohistiocytosis) - Genes PRF1 I> and UNC13D.
- Genetic Testing - Hemophilia A and B (Deficiencies of factor VIII and IX-Disease of Christmas-) (Hemophilia A and B) - Genes F8 I> and F9 I>.
- Genetic Testing - Hemorrhagic Telangiectasia hereditary types 1, 2 and 3 and juvenile polyposis (Telangiectasia Hereditary Hemorrhagic types 1, 2 and 3, and Juvenile Polyposis Hereditary Telangiectasia -JPHT-) Genes ENG, ACVRL1, GDF2 I> and < I> SM
- Genetic Testing - Hennekam syndrome ..., (Hennekam syndrome) - Genes or FAT4 CCBE1.
- Genetic Testing - Hepatic Lipase Deficiency ..., (Hepatic lipase deficiency) - Gen LIPC I>.
- Genetic Testing - Hepatitis C: evolution of the infection of hepatitis C virus (HCV) and genetic region polimofismo in IL28 - Gen IL28B I>.
- Genetic Testing - Hereditary angioedema types I, II and III (hereditary angioneurotic edema; deficiency C1 inhibitor) Hereditary Angioedema types I, II, and III (Hereditary angioneurotic edema; C1 Inhibitor Deficiency) - Genes SERPING1 I> and
- Genetic Testing - hereditary angioneurotic edema types I, II and III (See Angioedema types I, II and III).
- Genetic testing - Hereditary Cerebral Amyloid Angiopathy) - APP, CST3 and ITM2B.
- Genetic testing - hereditary congenital hematuria (See Alport syndrome).
- Genetic Testing - hereditary distal Motor neuropathy Type II (Distal hereditary neuropathy engine type II) - Genes HSPB1 I> and HSPB8 I>.
- Genetic testing - Hereditary hemochromatosis - HAMP, HFE, HFE2, SLCA40A1 and TFR2.
- Genetic Testing - hereditary hypophosphatemic rickets; Hypophosphatemia (hypophosphatemic rickets Hereditary) - Genes FGF23 I> and PHEX I>.
- Genetic testing - Hereditary leiomyomatosis and renal cell cancer, Reed syndrome, HLRCC - FH gene.
- Genetic testing - Hereditary Lymphedema (See Meige, disease ...).
- Genetic testing - Hereditary multiple exostoses; Osteochondroma - EXT1 and EXT2 genes.
- Genetic testing - Hereditary myopathy with early respiratory failure (HMERF) - TTN gene.
- Genetic Testing - hereditary neuropathy with pressure palsies - HNPP- (Hereditary liability to pressure neuropathy With palsies) - Gen PMP22 I>.
- Genetic Testing - hereditary nonpolyposis colorectal cancer; Lynch syndrome ..., (Hereditary nonpolyposis colorectal cancer -HNPCC-; Lynch syndrome) - Genes MLH1, MSH2, MSH6, or PMS2 EPCAM.
- Genetic testing - hereditary osteodystrophy McCune-Albright (See McCune Albright syndrome ...).
- Genetic Testing - hereditary paraganglioma-pheochromocytoma (Hereditary paraganglioma-pheochromocytoma) - Genes SDHA, SDHB, SDHC, SDHD I> and SDHAF2 I>.
- Genetic Testing - hereditary Piropoiquilocitosis (Hereditary pyropoikilocytosis -HPP-) - Gen SPTA1.
- Genetic testing - Hereditary sensory and autonomic neuropathy type IE - DNMT1 gene.
- Genetic Testing - hereditary spherocytosis (Hereditary spherocytosis) - Genes ANK1, EPB42, SLC4A1, SPTA1 I> and SPTB.
- Genetic Testing - hereditary stomatocytosis (Hereditary stomatocytosis) - Gen SLC4A1.
- Genetic Testing - Hermansky-Pudlak syndrome ..., types 1, 2, 3, 4, 5, 6, 7, 8, 9 (Hermansky-Pudlak syndrome, types 1, 2, 3, 4, 5, 6, 7, 8, 9) - Genes HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3 I> and BLOC1S6.
- Genetic testing - Hers, Disease ... (See gluconeogenesis type VI; Hers disease).
- Genetic testing - Heterotaxy syndrome - ACVR2B, CFAP53, CFC1, CITED2, CRELD1, DNAH11, DNAH5, DNAI1, FOXH1, GATA4, GDF1, GJA1, Lefty2, MMP21, NAT10, NKX2-5, NODAL, SESN1, SHROOM3, SMAD2 and ZIC3.
- Genetic testing - Autosomal dominant hyper-IgE syndrome ...; Job syndrome - Gen STAT3 and ZNF341 gene..
- Genetic testing - Hereditary hyperekplexia - GLRA1, GLRB or SLC6A5 gene.
- Genetic testing - Hipertrombinemia (See Thrombophilia protrombinémica).
- Genetic Testing - Hipocondrogénesis (Hypochondrogenesis) - Gen COL2A1.
- Genetic testing - Hirschsprung disease - EDN3, EDNRB and RET genes.
- Genetic Testing - Histiocytosis-plus lymphadenopathy syndrome ..., (Histiocytosis-lymphadenopathy syndrome plus) - Gen SLC29A3.
-
Genetic testing - HLA-B* 1502 allele and cutaneous adverse drug reactions by antiepileptic drugs
. - Genetic Testing - holoprosencephaly nonsyndromic (Nosyndromic holoprosencephaly) - Genes SHH, ZIC2, SIX3 I> and homeobox protein tgif1.
- Genetic Testing - Holt-Oram syndrome ..., (Holt-Oram syndrome) - Gen TBX5.
- Genetic Testing - homocystinuria (Homocystinuria) - Genes CBS, MTHFR, MTR, MTRR I> and MMADHC I>.
- Genetic testing - Hoyeraal-Hreidaarsson (HHS) syndrome ... (See dyskeratosis congenita).
- Genetic testing - HSD10 disease - HSD17B10 gene.
- Genetic testing - Hunter syndrome ... (See Mucopolysaccharidosis type II).
- Genetic testing - Huntington's Disease ... ,; Huntigton chorea (Huntington disease) - Gen HTT I> ( IT15; HD I>).
- Genetic Testing - Huntington-like types 1, 2 and 4, disease ..., (HLD1; HLD2; HLD4: Huntington disease-like types 1, 2 and 4) - Genes PRNP, JPH3 I> and TBP I>.
- Genetic testing - Hurler-Scheie syndrome ... (See Hurler syndrome).
- Genetic Testing - Hurler syndrome; Hurler syndrome ..., (Mucopolysaccharidosis type I, Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome) - Gen IDUA I> ..
- Genetic Testing - Hutchinson-Gilford Progeria Syndrome, ..., (Hutchinson-Gilford progeria syndrome) - Gen LMNA I>.
- Genetic testing - Hutchinson-Gilford progeria syndrome ... (See Hutchinson Gilford Progeria Syndrome).
- Genetic testing - Hyaline fibromatosis syndrome - ANTXR2 gene.
- Genetic Testing - Hydatidiform recurrent (hydatidiform mole Recurrent) - Genes NLRP7 I> and KHDC3L.
- Genetic Testing - Hydroxy-3-methylglutaryl-CoA mitochondrial, 3 -... (Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency) - Gen HMGCS2 I>.
- Genetic Testing - hydroxyacyl-CoA dehydrogenase long chain deficiency 3- ..., (LCHAD) (Long Chain hydroxyacyl-CoA dehydrogenase deficiency -LCHAD-) - Gen HADHA I>.
- Genetic Testing - hydroxyglutaric aciduria D-2, type I (D-2-hydroxyglutaric aciduria; D-2-HGA, type I) (See hydroxyglutaric aciduria varieties ...).
- Genetic Testing - hydroxyglutaric aciduria D-2, type II (D-2-hydroxyglutaric aciduria; D-2-HGA, type II) (See hydroxyglutaric aciduria varieties ...).
- Genetic Testing - hydroxyglutaric aciduria D, L-2 (D, L-2-hydroxyglutaric aciduria, D, L-2-HGA) (See hydroxyglutaric aciduria).
- Genetic Testing - hydroxyglutaric aciduria L-2 (L-2-hydroxyglutaric aciduria, D, L-2-HGA) (See hydroxyglutaric aciduria).
- Genetic Testing - hydroxylase deficiency 21- ...; Congenital adrenal hyperplasia deficiency 21-hydroxylase (21-hydroxylase deficiency, Congenital adrenal hyperplasia due to 21 hydroxylase deficiency) - Gen CYP21A2 I>.
- Genetic Testing - Hyper IgM, Immunodeficiency with hyper IgM type 2 (Inmunodeficiency With hyper-IgM, type 2) - Gen AICDA.
- Genetic Testing - Hyper IgM, Immunodeficiency with hyper IgM type 3 (Inmunodeficiency With hyper-IgM, type 3) - Gen CD40.
- Genetic Testing - Hyper IgM, Immunodeficiency with hyper IgM type 5 (hyper IgM With Inmunodeficiency, type 5) - Gen UNG.
- Genetic Testing - Hypercholesterolemia (Hypercholesterolemia) - Genes LDLR, APOB, LDLRAP1 I> and PCSK9 I>.
- Genetic Testing - Hyperferritinemia cataract syndrome ..., (Hyperferritinemia-cataract syndrome) - Gen FTL I>.
- Genetic testing - Hyperhomocystinemia (See homocystinuria).
- Genetic testing - Hyperimmunoglobulinemia D (See Mevalonatoquinasa, deficiency ...).
- Genetic Testing - hyperkalemic periodic paralysis (Hyperkalemic periodic paralysis) - Gen SCN4A I>.
- Genetic testing - hyperkeratosis Epidermolytic (Epidermolytic hyperkeratosis) (See ichthyosiform erythroderma bullosa).
- Genetic testing - Hyperlipidemia - (See hypertriglyceridemia).
- Genetic Testing - hyperlipoproteinemia types 1B, 1D, IIB, V, family - (See hypertriglyceridemia).
- Genetic testing - Hypermanganesemia with dystonia; Familial neurotoxicity due to manganese - SLC30A10 and SLC39A14 genes
- Genetic testing - hyperparathyroidism - jaw tumor syndrome ... (hyperparathyroidism-jaw tumor syndrome) (See hereditary or primary hyperparathyroidism).
- Genetic testing - Hypersensitivity to abacavir (see Abacavir Hypersensitivity to ...).
- Genetic Testing - Hypertension early onset (Early-onset hypertension) - Gen NR3C2 I>.
- Genetic Testing - hypertriglyceridemia (Hypertriglyceridemia) - Genes APOA5, APOC2, LIPI LMF1, GPIHBP1 I> and LPL I>.
- Genetic Testing - hyperuricemic uromodulin associated nephropathy (kidney disease-associated Uromodulin) - Gen UMOD.
- Genetic testing - Hypocalciuric hypercalcemia Family (FHH: hypocalciuria Familial hypercalcemia) or hypercalcemia Hypocalciuric family benign (FBHH: Benign Familial hypercalcemia hypocalciuria) (See hereditary or primary hyperparathyroidism).
- Genetic Testing - Hypochondroplasia (hypochondroplasia) - Gen FGFR3 I>.
- Genetic testing - Hypofibrinogenemia (See Afibrinogenaemia congenital).
- Genetic Testing - hypogonadotropic hypogonadism (hypogonadotropic hypogonadism) - Genes GnRHR, GNRH1, KISS1R, TAC3 I> and TACR3.
- Genetic testing - Hypohidrotic ectodermal dysplasia - EDA, EDAR, EDARADD and WNT10A genes.
- Genetic testing - Hypokalemic periodic paralysis (HOKPP) - CACNA1S and SCN4A genes.
- Genetic Testing - Hypomagnesaemia 1 intestinal (Hypomagnesemia 1 Intestinal) - Gen TRPM6.
- Genetic Testing - Hypomagnesaemia 2, kidney - (Hypomagnesemia 2 Renal) - Gen FXYD2.
- Genetic Testing - hypomagnesemia with secondary hypocalcemia (Hypomagnesemia With hypocalcemia secondary) - Gen TRPM6 I>.
- Genetic Testing - Hypomyelination and congenital cataract (Hypomyelination and congenital cataract) - Gen FAM126A I>.
- Genetic testing - Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) – DARS gene.
- Genetic testing - Hypophosphatasia – ALPL gene.
- Genetic testing - Hypophosphatemia (See hereditary hypophosphatemic rickets).
- Genetic Testing - Hypophosphatemic Rickets X linked -XLH - (hypophosphatemia) (See hereditary hypophosphatemic rickets).
- Genetic Testing - hypoplasia cartilage-hair (Cartilage-hair hypoplasia) - Gen RMRP.
- Genetic Testing - ichthyosis HARLEQUINA (Harlequin ichthyosis) - Gen ABCA12.
- Genetic Testing - ichthyosis vulgaris ichthyosis-single (Ichthyosis vulgaris-Ichthyosis Simplex) - Gen FLG.
- Genetic testing - ictiosiforme bullosa, Erythrodermia ... (See bullous ichthyosiform erythroderma, hyperkeratosis Epidermolytic).
- Genetic testing - Idiopathic infantile hypercalcemia; Vitamin D hypersensitivity - CYP24A1 and SLC34A1 genes.
- Genetic Testing - Idiopathic myelofibrosis (Primary myelofibrosis) - Genes JAK2, MPL, CALR I> and TET2.
- Genetic testing - idiopathic myelofibrosis (See primary myelofibrosis).
- Genetic Testing - Idiopathic pulmonary fibrosis (Idiopathic pulmonary fibrosis) - Genes TERC I> and TERT I>.
- Genetic Testing - Idiopathic short stature (Idiopathic short stature - ISS) - Gen SHOX I>.
- Genetic Testing - Imatinib: gastrointestinal stromal tumor. Imatinib (Gastrointestinal stromal tumor -GIST-) - Genes KIT I> and PDGFRA I>.
- Genetic Testing - Imatinib: Mastocytosis. Imatinib (Mastocytosis) - Gen KIT I>.
- Genetic testing - IMD1 Immunodeficiency type 1 (See X-linked agammaglobulinemia).
- Genetic Testing - Imerslund-Gräsbeck; Syndrome; Megaloblastic anemia (megaloblastic anemia, Imerslund-Gräsbeck syndrome) (See megaloblastic anemia syndrome Imerslund-Gräsbeck).
- Genetic testing - Immune thrombocytopenia; Idiopathic thrombocitopenic purpura; Werlhof disease.
- Genetic Testing - Immunodeficiency with hyper IgM type 2 (See Hyper IgM, Immunodeficiency with hyper IgM type 2).
- Genetic Testing - Immunodeficiency with hyper IgM type 3 (See hyper IgM, Immunodeficiency with hyper IgM type 3).
- Genetic Testing - Immunodeficiency with hyper IgM type 5 (See Hyper IgM, Immunodeficiency with hyper IgM type 5).
- Genetic testing - Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia – VCP gene.
- Genetic Testing - Inclusion of microvilli, disease ..., (Microvillus inclusion disease) - Gen MYO5B.
- Genetic Testing - incontinentia pigmenti; Bloch-Siemens-Sulzberger syndrome ...; (Incontinentia pigmenti, Bloch-Siemens-Sulzberger Syndrome) - Gen IKBKG I>.
- Genetic testing - Infantile Refsum's Disease ... (See Zellweger spectrum disorders ...).
- Genetic Testing - Insensitivity congenita pain (Congenital insensitivity to pain) - Gen SCN9A.
- Genetic Testing - Insensitivity growth hormone immunodeficient (Growth hormone insensitivity With immunodeficiency) - Gen STAT5B I>.
- Genetic Testing - Insensitivity to growth hormone (Growth Hormone Insensitivity) - Gen HRG I>.
- Genetic Testing - Insulin type A syndrome ..., (Type A insulin resistance syndrome) resistance - Gen INSR.
- Genetic Testing - Insulinoma (Insulinoma) - Gen MEN1 I>.
- Genetic Testing - Intellectual Disability linked to X-Alpha thalassemia (See alpha thalassemia with intellectual disabilities linked to X).
- Genetic Testing - Intellectual Disability related CASK (CASK-related Intellectual Disability) - Gen CASK I>.
- Genetic Testing - Intellectual Disability related HIVEP2 (HIVEP2-related Intellectual Disability) - Gen HIVEP2 I>.
- Genetic Testing - Intellectual Disability related SYNGAP1 (SYNGAP1-related Intellectual Disability) - Gen SYNGAP1 I>.
- Genetic Testing - Intellectual Disability X-linked Siderius (X-linked intellectual disability, Siderius type) type - Gen PHF8.
- Genetic testing - Interleukin 1 (IL1) (Interleukin-1, Interleukin-1): IL1A and IL1B polymorphisms - Genes IL1A I> and IL1B.
- Genetic Testing - Interstitial Pulmonary surfactant deficiency, disease ..., (Interstitial lung disease due to deficiency surfactant; Surfactant dysfunction) - Genes ABCA3, SFTPB I> and SFTPC.
- Genetic testing - Intervertebral disc disease.
- Genetic testing - intestinal polyposis II (See Peutz-Jeghers syndrome ...).
- Genetic testing - intestinal polyposis skin-pigmentation (See Peutz-Jeghers syndrome ...).
- Genetic testing - Intestinal pseudo-obstruction - FLNA and ACTG2 genes.
- Genetic Testing - Intrahepatic cholestasis of pregnancy (IPC: Intrahepatic cholestasis of pregnancy) - Genes ABCB11 I> or ABCB4 I>.
- Genetic Testing - IPEX syndrome inmundisregulación, polyendocrinopathy and enteropathy, X-linked (IPEX, Immune dysregulation, polyendocrinopathy, enteropathy syndrome X-linked) - Gen FOXP3.
- Genetic testing - IRAK-4 deficiency – IRAK4 gene.
- Genetic Testing - Iridodisgenesia type 1 (Iridogoniodysgenesis type 1) - Gen FOXC1.
- Genetic Testing - Irinotecan, toxicity ..., (Irinotecan toxicity) - Gen UGT1A1 I>.
- Genetic testing - irinotecan toxicity (See Irinotecan, toxicity ...).
- Genetic Testing - iron deficiency anemia, refractory iron (Iron deficiency anemia-refractory iron) - Gen TMPRSS6.
- Genetic Testing - isolated Aplastic anemia (aplastic anemia Isolated) - Genes TERC I> and TERT.
- Genetic Testing - isolated Familial hyperparathyroidism (Familial Isolated Hyperparathyroidism) (See hereditary or primary hyperparathyroidism).
- Genetic testing - Isolated or nonsyndromic polydactyly – GLI3 gene.
- Genetic testing - Isolated sulfite oxidase deficiency - SUOX gene.
- Genetic Testing - isovaleric acidemia, ... syndrome (deficiency isovaleric acid-CoA dehydrogenase; IVD, deficiency ...,) (Isovaleric acidemia syndrome) - Gen IVD
- Genetic Testing - IVD, deficiency ... (See acidemia isovaleric syndrome ...).
- Genetic Testing - Jacobsen syndrome ...; 11q deletion terminal; 11 q deletion syndrome of ..., (Jacobsen syndrome) - Genes ARHGAP32, ETS1, FLI1 I> and chromosome 11.
- Genetic testing - Jaeken syndrome ... (See Glycosylation Type Ia, impaired ...).
- Genetic testing - Jansen, metaphyseal chondrodysplasia ... (Jansen metaphyseal chondrodysplasia JMC) (See metaphyseal chondrodysplasia Jansen).
- Genetic Testing - Jervell and Lange-Nielsen syndrome - KCNE1 and KCNQ1 genes.
- Genetic testing - Jeune syndrome ... (See asphyxiating thoracic dystrophy).
- Genetic testing - Job syndrome ... (See Hiper IgE autosomal dominant syndrome ...).
- Genetic Testing - Johanson-Blizzard syndrome ..., (Johanson-Blizzard Syndrome) - Gen UBR1.
- Genetic testing - Joubert syndrome.
- Genetic testing - Junctional epidermolysis bullosa – COL17A1, LAMA3, LAMB3 and LAMC2 genes.
- Genetic testing - Juvenile idiopathic arthritis (JIA) - HLA-A, HLA-B, HLA-G, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, IL2RA, IL2RB, IL6, MIF, PTPN22, SLC11A1, STAT4, TNF, TNFAIP3, TRAF1, CCN6, ANKRD55, CD247, CTLA4, FAS, LACC1, PTPN2, RUNX1, TYK2, UBE2L
- Genetic testing - Juvenile myoclonic epilepsy - CACNB4, CLCN2, EFHC1, GABRA1 and GABRD genes.
- Genetic Testing - Juvenile polyposis syndrome ..., (Juvenile polyposis syndrome) - Genes SMAD4 I> and BMPR1A I>.
- Genetic Testing - juvenile primary lateral sclerosis (primary lateral sclerosis Juvenile) - Gen ALS2.
- Genetic Testing - juvenile primary Osteoporosis (Juvenile primary osteoporosis) - Gen LRP5.
- Genetic Testing - Juvenile Retinoschisis, X-linked (X-linked retinoschisis juvenile) - Gen RS1 I>.
- Genetic Testing - Kallmann syndrome ..., (Kallmann syndrome) - Genes years1 CHD7, FGF8, FGFR1, PROK2 I> and PROKR2 I>.
- Genetic testing - Kawasaki disease ... (Kawasaki disease) - Gen ITPKC.
- Genetic testing - KBG syndrome ANKRD11 gene.
- Genetic testing - Kearns-Sayre syndrome ..., (Kearns-Sayre syndrome) - mitochondrial DNA.
- Genetic testing - Kennedy, disease ... (See Atrophy spinobulbar Kennedy).
- Genetic Testing - Keratitis Ichthyosis Deafness and syndrome ..., (Keratitis-ichthyosis-deafness syndrome) - Gen GJB2.
- Genetic testing - Keratoconus - CAST, COL4A3, COL4A4, COL5A1, DOCK9, FNDC3B, FOXO1, HGF, IL1A, IL1RN, LOX, MIR184, RAB3GAP1, SLC4A11, TGFBI, VSX1, WNT10A, ZEB1 and ZNF469 genes.
- Genetic testing - Keratoderma with woolly hair – JUP, DSP, DSC2 and KANK2 genes
- Genetic Testing - Ketothiolase, deficiency ..., (Beta ketothiolase deficiency) - Gen ACAT1.
- Genetic Testing - Kindler syndrome ..., (Kindler syndrome) - Gen FERMT1 I>.
- Genetic Testing - Kleefstra syndrome ..., (Kleefstra syndrome) - Genes EHMT1 I> and chromosome 9.
- Genetic testing - Klinefelter syndrome - Chromosome X.
- Genetic Testing - Klippel-Fiel syndrome ..., (Klippel-Feil syndrome) - Genes GDF3, GDF6 I> and MEOX1 I>.
- Genetic Testing - Klippel-Trenaunay syndrome ..., (Klippel-Trenaunay syndrome) - Gen PIK3CA I>.
- Genetic Testing - Kniest Dysplasia (Kniest dysplasia) - Gen COL2A1 I>.
- Genetic testing - Kniest dysplasia ... (See Dysplasia Kniest).
- Genetic Testing - Koolen-de Vries, ... syndrome; Deletion 17q21.31 (Koolen-de Vries syndrome) - Gen KANSL1 I> and chromosome 17.
- Genetic testing - Kostmann syndrome ... (Severe congenital neutropenia) - (See Neutropenia severe congenital).
- Genetic testing - Krabbe disease - GALC gene.
- Genetic testing - Kugelberg-Welander or Juvenile type, disease ... (See Spinal Muscular Atrophy Type I, II, III, IV, ...).
- Genetic Testing - Kuskokwim syndrome ..., (Kuskokwim syndrome) - Gen FKBP10 I>.
- Genetic testing - Labrune syndrome ... (See Coats plus syndrome ...).
- Genetic Testing - Lacrimo-atrio-dento-digital syndrome ..., (Lacrimo-atrio-dento-digital syndrome -LADD-) - Genes FGFR2, FGFR3 I> or FGF10 I >.
- Genetic testing - Lactate dehydrogenase deficiency, ... (See type XI Glycogenoses). (Glycogen storage disease XI, Lactate dhydrogenase deficiency).
- Genetic testing - Lactic Acidosis deficiency pyruvate dehydrogenase (See pyruvate dehydrogenase deficiency ...).
- Genetic Testing - Lactose intolerance (Lactose intolerance) - Genes LCT I> and MCM6.
- Genetic Testing - Laing distal myopathy (Laing distal myopathy) - Gen MYH7 I>.
- Genetic Testing - lamellar ichthyosis (Lamellar inchthyosis) - Gen TGM1 I>.
- Genetic testing - Langer-Gieidon syndrome ... (See Trico-rino-phalanga).
- Genetic testing - Langer, mesomelic ... Dysplasia (See mesomelic Dysplasia Langer).
- Genetic testing - Langerhans cell histiocytosis - BRAF, MAP2K1 and MAP3K1 genes.
- Genetic testing - Laron dwarfism (See Laron syndrome ...).
- Genetic testing - Laron syndrome; Growth hormone insensitivity syndrome; Growth hormone receptor deficiency - GHR gene.
- Genetic Testing - Larsen syndrome ..., (Larsen syndrome) - Gen FLNB I>.
- Genetic Testing - Laryngo onycho-cutaneous syndrome ..., (Laryngo onycho-cutaneous syndrome-) - Gen LAMA3.
- Genetic testing - Late-onset Alzheimer disease - APOE gene.
- Genetic Testing - lateral Meningocele, ... syndrome (syndrome Lateral meningocele) - Gen NOTCH3 I>.
- Genetic Testing - Leber's hereditary optic neuropathy (Leber hereditary optic neuropathy -LHON-) - Genes MT-ND1, MT-ND4, MT-ND4L, MT-ND6 I> and other mitochondrial genes in which are mutations ( MT-ND2, MT-ATP6, MT-ND5 I> or others).
- Genetic testing - Leber's hereditary optic neuropathy ... (See Leber's hereditary optic neuropathy).
- Genetic Testing - Legg-Calve-Perthes disease ..., (Legg-Calve-Perthes disease) - Gen COL2A1.
- Genetic Testing - Leigh syndrome ..., (Leigh syndrome) - Genes MT-ATP6 I> and SURF1 I>.
- Genetic testing - Lentiginosis myocardial (See Noonan with multiple lentigines syndrome ...).
- Genetic testing - Leopard syndrome ... (See Noonan with multiple lentigines syndrome ...).
- Genetic Testing - Leptin deficiency, Congenital ..., (Congenital leptin deficiency) - LEP gene.
- Genetic Testing - Leri-Weill Dyschondrosteosis (Leri-Weill dyschondrosteosis) - Gen SHOX I>.
- Genetic testing - Leri-Weill syndrome ... (See Dyschondrosteosis Leri-Weill).
- Genetic Testing - Lesch-Nyhan syndrome ..., (Lesch-Nyhan syndrome) - Gen HPRT1 I>.
- Genetic Testing - lethal skeletal dysplasia platispondílica, Torrance type (Platyspondylic dysplasia lethal skeletal, Torrance type) - Gen COL2A1.
- Genetic Testing - leukodystrophy autosomal dominant with autonomous disease (autosomal dominant leukodystrophy With autonomic disease) - Gen LMNB1 I>.
- Genetic testing - leukodystrophy melanodermic (See X-linked adrenoleukodystrophy)
- Genetic testing - Pol III-related leukodystrophy - POLR3A and POLR3B genes..
- Genetic Testing - leukoencephalopathy deficient RNase T2 (T2-deficient RNAse leukoencephalopathy) - Gen RNASET2 I>.
- Genetic Testing - leukoencephalopathy (Leukoencephalopathy) - Gen NOTCH3 I>.
- Genetic Testing - leukoencephalopathy with involvement of brainstem and spinal cord and elevated lactate (Leukoencephalopathy With brainstem and spinal cord and lactate elevation Involvement) - Gen DARS2.
- Genetic Testing - leukoencephalopathy with involvement of the thalamus and brainstem and high lactate (thalamus and brainstem Leukoencephalopathy With Involvement and high lactate) - Gen EARS2 I>.
- Genetic testing - leukoencephalopathy with subcortical cysts megalencefálica vacuolizante (See leukoencephalopathy with subcortical cysts megalencefálica).
- Genetic Testing - leukoencephalopathy with vanishing white matter (white matter Leukoencephalopathy With vanishing) - Genes EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5.
- Genetic testing - Lhermitte-Duclos disease ... (See Cowden syndrome ...
- Genetic Testing - Li Fraumeni syndrome ..., (Li Fraumeni syndrome) - Genes CHEK2 I> and TP53.
- Genetic Testing - Liddle syndrome ..., (Liddle syndrome) - Genes SCNN1B I> and SCNN1G I>.
- Genetic Testing - Liebenberg syndrome ..., (Liebenberg syndrome) - Gen PITX1 I>.
- Genetic testing - Limb-girdle muscular dystrophy – CAPN3, DYSF, SGCA, SGCB, SGCD, SGCG, ANO5, TTN, CAV3, LMNA, MYOT, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DNAJB6, FKRP, FKTN, GMPPB, HNRNPDL, LAMA2, PLEC, POGLUT1, POMGNT1, POMGNT2, POMT1, POMT2, TCAP, TN
- Genetic testing - Lipase Deficiency combined ... - (See hypertriglyceridemia).
- Genetic Testing - Lipoid proteinosis (Lipoid proteinosis) - Gen ECM1 I>.
- Genetic Testing - Lipomatosis cranio-encephalic-cutaneous (Encephalocraniocutaneous lipomatosis) - Gen FGFR1.
- Genetic testing - PIK3CA-Related Overgrowth Spectrum (PROS) - PIK3CA gene.
- Genetic Testing - Lipoprotein lipase deficiency ..., (Familial lipoprotein lipase deficiency) - Gen LPL.
- Genetic Testing - lissencephaly isolated (Isolated lissencephaly sequence) - Genes PAFAH1B1, DCX I> and TUBA1A.
- Genetic Testing - lissencephaly with cerebellar hypoplasia (lissencephaly cerebellar hypoplasia With) - Genes RELN I> and TUBA1A.
- Genetic Testing - lissencephaly, X-linked with abnormal genital (X-linked lissencephaly With abnormal genitalia) - Gen ARX.
- Genetic Testing - -LMMJ- juvenile myelomonocytic leukemia (Juvenile myelomonocytic leukemia -JMML-) - Genes PTPN11, NF1, SPECC1, ARHGAP26, NRAS I> and KRAS I>.
- Genetic testing - LMNA-related congenital muscular dystrophy – LMNA gene.
- Genetic Testing - Long QT types 1 to 13, Syndrome ..., (Long QT syndrome - LQTS-) - Genes KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CPVT1, CAV3, KCNJ5, CACNA1C I> and SCN4B I>.
- Genetic testing - Louis-Bar syndrome ... (See Ataxia-telangiectasia).
- Genetic Testing - Lowe syndrome ..., (Lowe syndrome) - Gen OCRL.
- Genetic Testing - Lujan syndrome ..., (Lujan syndrome) - Gen MED12 I>.
- Genetic testing - Lung cancer - TP53, EGFR, KRAS and other genes.
- Genetic Testing - lupus erythematosus (Systemic Lupus Erythematosus).
- Genetic testing - Lynch syndrome ... HNPCC: heriditary nonpolyposis Colorectal Cancer (See Colorectal cancer hereditary nonpolyposis family).
- Genetic testing - 3-M syndrome - CUL7, OBSL1 or CCDC8 genes
- Genetic testing - Machado-Joseph disease ... (See spinocerebellar ataxia type 3).
- Genetic Testing - I Macrodactila type syndrome ..., (See related overgrowths PIK3CA I>).
- Genetic testing - Macroglobulinemia de Waldenstrom (See Waldenstrom macroglobulinemia).
- Genetic Testing - macrothrombocytopenia and progressive deafness syndrome ..., (related MYH9 processes: anomaly May-Hegglin; Epstein syndrome, Fechtner syndrome, Sebastian syndrome) (MYH9-related disorder) - Gen MYH9 I>.
- Genetic Testing - Macrozoospermia (Macrozoospermia) - Gen AURKC.
- Genetic Testing - Macular Degeneration Stargardt (Stargardt macular degeneration) - Genes ABCA4 I> and ELOVL4 I>.
-
Genetic Testing - Maffucci syndrome ..., (Maffucci syndrome) - Gen IDH1 I> and
. - Genetic Testing - Mainzer-Saldino syndrome ..., (Mainzer-Saldino syndrome) - Gen IFT140.
- Genetic Testing - Majeed syndrome ..., (Majeed syndrome) - Gen LPIN2.
- Genetic testing - Male XX - (see gonadal dysgenesis XX).
- Genetic Testing - Malignant hyperthermia (malignant hyperthermia) - Genes CACNA1S I> and RYR1.
- Genetic testing - Maligno familial paraganglioma (See non-syndromic Paraganglioma; nonsyndromic paraganglioma).
- Genetic testing - Malpuech syndrome ... (See MC syndrome 3 ...,).
- Genetic Testing - mandíbuloacral Dysplasia types A and B (A and Mandibuloacral dysplasia types B) - Genes LMNA I> and ZMPSTE24.
- Genetic Testing - mandibulofacial dysostosis -MFD1- (See Treacher Collins syndrome ..., Treacher Collins Franceschetti-syndrome ..., Franceschetti-Zwahlen-Klein syndrome ...; Dysplasia cigoauromandibular).
- Genetic testing - Mannose-binding lectin deficiency - MBL2 gene.
- Genetic Testing - Mannosidosis alpha (Alpha-Mannosidosis) - Gen MAN2B1.
- Genetic testing - Maple syrup urine disease - BCKDHA, BCKDHB and DBT genes.
- Genetic Testing - Marfan syndrome - FBN1 gene.
- Genetic Testing - Marinesco-Sjögren syndrome ..., (Marinesco-Sjogren syndrome) - Gen SIL1.
- Genetic testing - Maroteaux- Lamy syndrome ... (See Mucopolysaccharidosis type VI).
- Genetic Testing - MASA syndrome ..., (See CRASH syndrome ..., Agenesis of Corpus Callosum, X-linked hydrocephalus, familial spastic paraplegia type 1).
- Genetic Testing - Mastocytosis skin; Urticaria pigmentosa (Cutaneous mastocytosis) - Gen KIT I>.
- Genetic testing - mastocytosis, treatment with imatinib (See Imatinib: Mastocytosis Treatment with imatinib.).
- Genetic Testing - May-Hegglin anomaly ... (See macrothrombocytopenia and progressive deafness syndrome ...).
- Genetic testing - MBD5-associated neurodevelopmental disorder; 2q23.1 microdeletion syndrome - MBD5 gene and chromosome 2.
- Genetic testing - 3MC syndrome; Oculo-skeletal-abdominal syndrome - COLEC10, COLEC11 or MASP1 genes.
- Genetic testing - McArdle's Disease ... (See glycogenosis type V).
- Genetic testing - McCune-Albright syndrome; Hereditary osteodystrophy - Gen GNAS.
- Genetic testing - MDA5 deficiency - IFIH1 gene.
- Genetic testing - MEB, disease ..., -muscular-eye-brain (See Walker-Warburg syndrome ...).
- Genetic Testing - Meckel syndrome (Meckel syndrome) - Genes B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216 I> and TMEM67.
- Genetic testing - MECP2 Duplication (See related severe neonatal encephalopathy MECP2).
- Genetic testing - MECP2-related severe neonatal encephalopathy - MECP2 gene.
- Genetic testing - MED13L syndrome – MED13L gene.
- Genetic Testing - Medullary thyroid carcinoma (medullary thyroid carcinoma Familial -FMTC-) - Gen RET I>.
- Genetic Testing - megalencefálica leukoencephalopathy with subcortical cysts; Leukoencephalopathy with subcortical cysts vacuolizante megalencefálica; Van der Knaap disease (Megalencephalic leukoencephalopathy With subcortical cysts) - Genes <
- Genetic Testing - Megalencephaly capillary malformation syndrome ..., (MCAP: megalencephaly-Capillary Malformation syndrome) (See related overgrowths PIK3CA I>).
- Genetic testing - Megalencephaly, Polymicrogyria, Polidactlia, Hidrocephalus syndrome ... (MPPH: megalencephaly, polymicrogyria, Polydactyly, Hidrocephalus syndrome) (See related outgrowths PIK3CA I>).
- Genetic Testing - Megaloblastic anemia syndrome Imerslund-Gräsbeck (megaloblastic anemia, Imerslund-Gräsbeck syndrome) - Genes or CUBN AMN.
- Genetic Testing - MEGDEL syndrome ..., (MEGDEL syndrome) - Gen SERAC1.
- Genetic testing - Meige's Disease ...; Hereditary lymphoedema (Meige disease).
- Genetic testing - Melanoma.
- Genetic Testing - Melanoma-astrocytoma syndrome ... (Melanoma-Astrocytoma syndrome, Melanoma and neural system tumor syndrome) - Gen CDKN2A I>
- Genetic Testing - Melas (motochondrial encephalopathy, lactic acidosis and stroke episodes) (Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) - Genes MT-ND1, MT-ND5, MT-TH, MT-TL1, MT- TV.
- Genetic Testing - Meleda, Mal ..., (Mal de Meleda) - Gen SLURP1.
- Genetic testing - Melnick-Fraser syndrome ... (See Brachio-oto-renal syndrome).
- Genetic testing - Melnick-Needles syndrome ... (See otopalatodigital types 1 and 2, syndrome ...).
- Genetic testing - Melorheostosis; Leri disease – MAP2K1 gene.
- Genetic testing - Ménière disease.
- Genetic Testing - Menkes syndrome ... (Menkes syndrome) - Gen ATP7A.
- Genetic Testing - mesomelic Dysplasia Langer (Langer mesomelic dysplasia) - Gen SHOX I>.
- Genetic Testing - Metachromatic leukodystrophy - (Metachromatic leukodystrophy) - Genes ARSA I> and PSAP.
- Genetic Testing - metaphyseal chondrodysplasia Jansen (Jansen metaphyseal chondrodysplasia JMC) - Gen PTH1R.
- Genetic Testing - Methaemoglobinemia type beta-globin (methemoglobinemia, beta-globin type) - Gen HBB I>
- Genetic Testing - methylbutyryl-CoA dehydrogenase deficiency 2- ...; Glicinuria methylbutyryl, ... deficiency 2- (2-Methylbutyryl-CoA dehydrogenase deficiency; 2-Methylbutyryl glycinuria) - Gen ACADSB I>.
- Genetic Testing - methylcrotonyl-CoA carboxylase deficiency of ..., (3-methylcrotonyl-CoA carboxylase deficiency) - Genes MCCC1 I> and MCCC2.
- Genetic Testing - Methylmalonic acidemia (Methylmalonic acidemia) - Genes MUT, MMAA, MoEF, MMADHC I> and ESCM I>.
- Genetic Testing - Methylmalonic, Acidemia (Methylmalonic acidemia). (See methylmalonic acidemia).
- Genetic Testing - methylmalonic acidemia with homocystinuria, types cblC, cblD, cblF, cblJ and CBLX (Methylmalonic acidemia With homocystinuria) - Genes MMACHC, MMADHC, LMBRD1, ABCD4 I> or HCFC1 I> .
- Genetic testing - Mevalonate kinase deficiency (MKD) - MVK gene
- Genetic testing - mevalonic aciduria (See Mevalonatoquinasa, deficiency ...).
- Genetic testing - Michaels syndrome ... (See MC syndrome 3 ...,).
- Genetic testing - Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) – PCNT gene.
- Genetic Testing - microcephaly and lissencephaly. Developmental disorders of cerebral cortex (lissencephaly Microcephaly Malformations of cortical and development.) - Genes involved.
- Genetic testing - Microcephaly, seizures, and developmental delay – PNKP gene
- Genetic Testing - microcytic hypochromic anemia with iron overload (hypochromic microcytic anemia with iron overload) - Gen SLC11A2.
- Genetic testing - Microdeletion 16p12.2 - Chromosome 16.
- Genetic testing - Microdeletion 3q29 syndrome - Chromosome 3.
- Genetic testing - Microdeletion 5q31.3 syndrome - NRG2 and PURA genes.
- Genetic testing - Microdeletion 9q22.3 - PTCH1 gene and chromosome 9.
- Genetic testing - Micromegacystis-microcolon-intestinal hypoperistalsis syndrome - ACTG2, LMOD1, MYH11 and MYLK genes.
- Genetic Testing - microphthalmia Lenz Syndrome ..., (Lenz microphthalmia syndrome) - Gen BCOR I>.
- Genetic Testing - microphthalmia (Microphthalmia) - Genes BCOR, BMP4, GDF3, GDF6, MFRP, OTX2, PAX6, PRSS56, RAX, SHH, SIX6, SOX2, STRA6 I> and VSX2 I>
- Genetic testing - Microsatellite instability in hereditary or sporadic cancers – Hexaplex markers panel; BRAF gene mutation c.1799T>A, p.V600E; MLH1 gene promoter hypermethylation; genes MLH1, MSH2, MSH6, PMS2, EPCAM or others.
- Genetic Testing - Miller-Dieker syndrome ..., (Miller-Dieker syndrome) - Genes PAFAH1B1 i> and ywhae.
- Genetic Testing - Miller syndrome ..., (Miller syndrome) - Gen DHODH.
- Genetic Testing - Milroy disease ..., (Milroy disease) - Gen FLT4.
- Genetic testing - Mingarelli syndrome ... (See MC syndrome 3 ...,).
- Genetic testing - MIRAS - sensory ataxia syndrome recessive mitochondrial (mitochondrial recessive ataxia syndrome -MIRAS-) (See ataxic neuropathy, Espectrum).
- Genetic testing - Mitochondrial complex I deficiency; Isolated deficiency of NADH-Coenzyme Q reductase.
- Genetic Testing - mitochondrial Complex II deficiency of ..., (Mitochondrial complex II deficiency) - Genes SDHA I> and SDHAF1 I>.
- Genetic Testing - mitochondrial Complex III deficiency ..., (Mitochondrial complex III deficiency) - Genes MT-CYB I> and BCS1L I>.
- Genetic testing - Mitochondrial complex V deficiency - ATP5A1, ATP5E, ATPAF2, MT-ATP6, MT-ATP8 and TMEM70 genes.
- Genetic Testing - Mitochondrial Encephalopathy neurogastrointestinal -MNGIE- (neurogastrointestinal Mitochondrial encephalopathy disease -MNGIE-) - Gen TYMP.
- Genetic Testing - Miyoshi myopathy (Miyoshi myopathy) - Genes DYSF I> or Year5 I>.
- Genetic testing - Moderate Hiperparairoidismo autosomal dominant (ADMH: Hyperparathyroidism Autosomal Dominant Moderate) (See hereditary or primary hyperparathyroidism).
- Genetic testing - Mody Type 1 Diabetes ... (See Diabetes Mody).
- Genetic testing - Mody type 2 Diabetes (See Diabetes Mody).
- Genetic testing - Mody Type 3 Diabetes ... (See Diabetes Mody).
- Genetic Testing - Moebius syndrome ..., (Moebius syndrome).
- Genetic testing - Monilethrix - DSG4, KRT81, KRT83 and KRT86.
- Genetic testing - monosomy X (See Turner syndrome ...).
- Genetic Testing - Morquio Syndrome (Mucopolysaccharidosis type IV, Morquio syndrome) - Genes GALNS I> and GLB1.
- Genetic testing - Morquio syndrome ... (See Morquio Syndrome).
- Genetic testing - Morris syndrome ... (See androgen insensitivity syndrome ...).
- Genetic Testing - Motor neuropathy distal type V (Distal hereditary neuropathy type engine V) - Genes BSCL2 I> and GARS I>.
- Genetic Testing - Mowat-Wilson syndrome ..., (Mowat-Wilson syndrome) - Gen ZEB2 I>.
- Genetic Testing - Moyamoya disease - RNF213 gene.
- Genetic Testing - mtDNA depletion related rrm2b, encefalomiopática form with renal tubulopathy (rrm2b-related mitochondrial DNA depletion syndrome, renal tubulopathy With encephalomyopathic form) - Gen rrm2b I>.
- Genetic Testing - Mucolipidosis II alpha / beta (Mucolipidosis II alpha / beta) - Gen GNPTAB I>.
- Genetic Testing - Mucolipidosis III gamma (gamma Mucolipidosis III) - Gen GNPTG I>.
- Genetic Testing - Mucolipidosis type IV (Mucolipidosis type IV) - Gen MCOLN1 I>.
- Genetic Testing - Mucopolysaccharidosis type II; Hunter syndrome ..., (Mucopolysaccharidosis type II Hunter syndrome) - Gen IDS I>.
- Genetic Testing - Mucopolysaccharidosis type IX (Mucopolysaccharidosis type IX) - Gen HYAL1.
- Genetic Testing - Mucopolysaccharidosis type VI; Maroteaux-Lamy syndrome ..., (Mucopolysaccharidosis type VI, Maroteaux-Lamy syndrome) - Gen ARSB I>.
- Genetic testing - Mucosulfatidosis (See Multiple sulfatase deficiency ...).
- Genetic testing - Muenke syndrome – FGFR3 gene
- Genetic testing - Multiminicore, disease ...; Multiminicore myopathy (multiminicore disease) - Genes Sepn1 I> and RYR1 I>.
- Genetic Testing - Multiple cutaneous leiomyomata (MCL) (See Hereditary leiomyomatosis and renal cancer).
- Genetic Testing - Multiple Enchondromatosis Ollier (Enchondromatosis Ollier multiple type) type - Gen PTHR1.
- Genetic Testing - Multiple endocrine neoplasia type 1, 2 and 4 (Multiple endocrine neoplasia types 1, 2 and 4) - Genes MEN1, RET I> and CDKN1B.
- Genetic testing - Multiple lentigines syndrome ... (See Noonan with multiple lentigines syndrome ...).
- Genetic Testing - multiple mitochondrial dysfunction syndrome ..., (Multiple mitochondrial dysfunctions syndrome) - Genes or BOLA3 NFU1.
- Genetic Testing - Multiple myeloma (multiple myeloma) - Genes BRAF, CCND1, FGFR3, IRF4, LIG4, MUM1 I> and chromosome 14.
- Genetic testing - Multiple sclerosis (MS) - CYP27B1, HLA-DRB1, IL2RA, IL7R and TNFRSF1A genes.
- Genetic testing - Multiple sulfatase deficiency - SUMF1 gene.
- Genetic Testing - Multiple system atrophy (Multiple system atrophy) - Gen SNCA I> and COQ2 I>.
- Genetic Testing - Multiple Trichoepithelioma family (Multiple familial trichoepithelioma) - Gen CYLD I>.
- Genetic Testing - Musckle-Wells syndrome ..., (Muckle-Wells syndrome) - Gen NLRP3 (C1AS1).
- Genetic testing - muscle glycogen phosphorylase deficiency ... (See Glocogenosis type V, McArdle's disease).
- Genetic testing - Muscle Glycogen phosphorylase deficiency ... (See Glycogenoses type V, McArdle's disease).
- Genetic Testing - Muscle hypertrophy related to myostatin (Myostatin-related muscle hypertrophy) - Gen MSTN.
- Genetic testing - Facioscapulohumeral muscular dystrophy (FSHD): Haplotype 4qA161 and PAS polymorphism (Polyadenylation signal) in pLAM region (FSHD1) and SMCHD1 gene (FSHD2).
- Genetic Testing - Muscular Dystrophy Fukuyama congenital - (Fukuyama congenital muscular dystrophy) - Gen FKTN.
- Genetic testing - Oculopharyngeal muscular dystrophy (OPMD) - PABPN1 gene.
- Genetic testing - LAMA2-related muscular dystrophy - LAMA2 gene.
- Genetic Testing - muscular dystrophy Ullrich (See myopathy related to type VI collagen).
- Genetic Testing - Myasthenia Gravis (Myasthenia gravis).
- Genetic Testing - MyD88, deficiency ..., (MyD88 deficiency) - Gen MYD88 I>.
- Genetic Testing - myeloproliferative neoplasms: Polycythemia vera, Essential thrombocytosis, Idiopathic myelofibrosis (Myeloproliferative neoplasms: Polycythemia vera, Essential thrombocythemia, myelofibrosis Primary) - Gen JAK2 I>.
- Genetic testing - MYH9, disorders related to ... (See macrothrombocytopenia and progressive deafness syndrome ...).
- Genetic Testing - Myhre syndrome ..., (Myhre syndrome) - Gen SMAD4.
- Genetic Testing - Myoadenylate deaminase deficiency ..., deficiency (adenosine monophosphate deaminase -AMP-; Adenosine monophosphate deaminase -AMP-, deficiency ...) (See Adenosine monophosphate deaminase deficiency ...)
- Genetic Testing - Myoadenylate deaminase deficiency ...,; (Deficiency -AMP- deaminase adenosine monophosphate, adenosine monophosphate -AMP- deaminase deficiency ...) (See Adenosine monophosphate deaminase).
- Genetic testing - Myoclonus dystonia - SGCE, KCTD17 and RELN genes.
- Genetic Testing - myoclonic encephalopathy CHD2 (CHD2 myoclonic encephalopathy) - Gen CHD2 I>.
- Genetic Testing - Myoclonic epilepsy with ragged red fibers (Myoclonic epilepsy ragged-red fibers With -MERRF-) - Genes MT-TK, MT-TL1, MT-TH I> and MT-TSI.
- Genetic Testing - Myoclonus and renal failure syndrome ..., (Action myoclonus-renal failure syndrome) - Gen SCARB2 I>.
- Genetic Testing - myopathy accumulation of actin (Actin-accumulation myopathy) - Gen ACTA1.
- Genetic Testing - myopathy couplers deficient enzymes iron-sulfur (Myopathy With deficiency of iron-sulfur cluster assembly enzyme) - Gen ISCU.
- Genetic testing - Myopathy deaminase deficiency Myoadenylate (See Adenosine monophosphate deficiency ...).
- Genetic Testing - myopathy inclusion bodies 2 (Inclusion body myopathy 2) - Gen GNE.
- Genetic Testing - myopathy mtDNA depletion related TK2 (TK2-related mitochondrial DNA depletion syndrome, myopathic form) - Gen TK2 I>.
- Genetic Testing - myopathy myofibrillar types 1, 2, 3, 4, 5 and 6 (Myofibrillar myopathy types 1, 2, 3, 4, 5 and 6) - Genes DES, Myot (= TTID), LDB3, CRYAB, CNLF I> and BAG3 I>.
- Genetic Testing - myopathy Salih (Salih myopathy) - Gen TTN.
- Genetic Testing - myopathy type VI collagen related (Collagen VI related myopathy) - Genes COL6A1, COL6A2 I> and COL6A3 I>.
- Genetic Testing - myosin storage myopathy (Myosin storage myopathy) - Gen MYH7.
- Genetic testing - Myostatin in dogs - Study of the MSTN gene to determine mutations causing loss of its regulatory function: PCR amplification and sequencing, with determination of homozygosity or heterozygosity.
- Genetic Testing - Myotonia congenita, Thomsen Disease and Becker (congenital Myotonia, Thomsen and Becker disease disease) - Gen CLCN1.
- Genetic Testing - myotonic dystrophy; Myotonic dystrophy type 1; Steinert Disease (Myotonic dystrophy type 1) - Gen DMPK I>.
- Genetic Testing - myotonic dystrophy type 2 (Myotonic dystrophy type 2) - Gen CNBP I> (= ZNF9 I>).
- Genetic Testing - myotubular myopathy, X-linked (X-linked myotubular myopathy) - Gen MTM1.
- Genetic testing - N-acetylglutamate synthase deficiency – NAGS gene.
- Genetic Testing - Naegeli-Franceschetti-Jadassohn syndrome ..., reticular dermatopathia pigmentosa (Naegeli-Franceschetti-Jadassohn syndrome, Dermatopathia pigmentosa reticularis) - Gen KRT14.
- Genetic testing - Nager syndrome - SF3B4 gene.
- Genetic Testing - Nail-Patella Syndrome (Nail-patella syndrome) - Gen LMX1B.
- Genetic testing - Narcolepsy; Gelineau syndrome - HLA-DQB1 gene.
- Genetic testing - Nasu-Hakola, disease ... (See osteodysplasia with sclerosing leukoencephalopathy lipomembranous Polycystic).
- Genetic Testing - nemaline myopathy (nemaline myopathy) - Genes ACTA1, NEB, TNNT1, TPM2, TPM3, CFL2, KBTBD13, KLHL40, KLHL41 I> and LMOD3 I>
- Genetic Testing - neonatal adrenoleukodystrophy (See Zellweger spectrum disorders ...).
- Genetic testing - Nephroblastoma (See Wilms tumor ...).
- Genetic Testing - Nephrogenic Diabetes Insipidus (Nephrogenic diabetes insipidus) - Genes or AQP2 AVPR2.
- Genetic Testing - Nephronophthisis (nephronophthisis) - Genes NPHP1, INVS I> ( NPHP2 I>), NPHP3, NPHP4, IQCB1 I> ( NPHP5 I >), CEP290 I> ( NPHP6 I>), GLIS2 I> ( NPHP7 I>), RPGRIP1L I> ( NPHP8
- Genetic Testing - Nephrotic type 1 syndrome ..., (Congenital nephrosis Finnish type) - NPHS1 gene.
- Genetic testing - Nephrotic type 10 syndrome ..., - EMP2 gene.
- Genetic Testing - Nephrotic type 2 syndrome - NPHS2 gene.
- Genetic testing - Nephrotic type 4 syndrome - WT1 gene.
- Genetic Testing - Nephrotic type 5, with or without ocular abnormalities syndrome ..., (Nephrotic Syndrome, Type 5, with or without ocular abnormalities) - Gene LAMB2.
- Genetic Testing - Nephrotic type 6 syndrome ..., (Nephrotic Syndrome type 6) - Gen PTPRO.
- Genetic Testing - Nephrotic type 7 syndrome ..., (Nephrotic Syndrome, Type 7) - Gen DGKE.
- Genetic testing - Nephrotic type 8 syndrome - ARHGDIA gene.
- Genetic Testing - Nephrotic type 9, syndrome ..., (Nephrotic Syndrome, Type 9) - Gen ADCK4.
- Genetic Testing - Netherton syndrome ..., (Netherton syndrome) - Gen SPINK5.
- Genetic Testing - Neuroacanthocytosis McLeod syndrome ..., (McLeod syndrome neuroacanthocytosis) - Gen XK I>.
- Genetic Testing - neuroaxonal dystrophy child (Infantile Neuroaxonal dystrophy) - Gen PLA2G6.
- Genetic Testing - Neuroblastoma (Neuroblastoma) - Genes ALK, KIF1B, MYCN I> and PHOX2B.
- Genetic testing - Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart - RERE gene.
- Genetic Testing - Neuroferritinopatía (Neuroferritinopathy) - Gen FTL I>.
- Genetic Testing - Neurofibromatosis type 1 (von Recklinghausen disease, peripheral neurofibromatosis) (Neurofibromatosis type 1, von Recklinghausen Disease, Peripheral Neurofibromatosis) - Gen NF1 I>.
- Genetic Testing - Neurofibromatosis type 2 (Neurofibromatosis type 2) - Gen NF2 I>.
- Genetic testing - Neuropathic Ataxia, spectrum ... (See ataxic neuropathy spectrum ...).
- Genetic testing - Neuropathy, ataxia and retinitis pigmentosa (NARP) - MT-ATP6 gene.
- Genetic Testing - Neuropathy hereditary sensory and autonomic type II (Hereditary sensory and autonomic neuropathy type II) - Genes FAM134B I> and WNK1 I>.
- Genetic Testing - Neuropathy Hereditary Sensory IA (Hereditary sensory neuropathy type IA) type - Gen SPTLC1 I>.
- Genetic Testing - Nevoid Basal Cell Carcinoma, Gorlin syndrome (Gorlin syndrome, Nevoid basal cell carcinoma syndrome) - Gen PTCH1 I>.
- Genetic testing - NGLY1-congenital disorder of deglycosylation - NGLY1 gene.
- Genetic Testing - Nicolaides-Baraitser syndrome ..., (Nicolaides-Baraitser syndrome) - Gen SMARCA2 I>.
- Genetic Testing - nigrospinodentatal Degeneration (See Spinocerebellar ataxia type 3).
- Genetic Testing - Nijmegen syndrome ..., (Nijmegen breakage syndrome) - Gen NBN.
- Genetic Testing - nocturnal frontal lobe epilepsy autosomal dominant (autosomal dominant nocturnal frontal lobe epilepsy -ADNFLE-) - Genes CHRNA2, CHRNA4 I> and CHRNB2.
- Genetic Testing - Non-Hodgkin Lymphoma family (Non-Hodgkin lymphoma familial) - Genes RAD54L, CASP10, Rad54B I> and PRF1.
- Genetic testing - non-syndromic craniosynostosis Coronal (See Muenke syndrome ...).
- Genetic Testing - Nonalcoholic fatty liver disease, ..., (Non-alcoholic fatty liver disease) - Genes PNPLA3, APOC3, GCKR, MBOAT7, TM6SF2 and TRIB1.
- Genetic Testing - nonketotic hyperglycinemia; Glycine encephalopathy (Glycine encephalopathy) - Genes AMT I> and GLDC.
- Genetic Testing - nonsyndromic Male infertility related CATSPER1 (CATSPER1-related nonsyndromic male infertility) - Gen CATSPER1 I>.
- Genetic Testing - Noonan syndrome - PTPN11, SOS1, RAF1 and RIT1 .
- Genetic testing - Noonan with multiple lentigines syndrome ...; LEOPARD syndrome; myocardial lentigines (Noonan syndrome with multiple lentigines) - Genes PTPN11, RAF1, BRAF I> and MAP2K1 I>.
- Genetic Testing - Norrie disease ..., (Norrie Disease) - Gen NDP.
- Genetic Testing - Northern Epilepsy (Northern epilepsy) - Gen CLN8.
- Genetic testing - NTRK genes codifying for tyrosine-kinase receptors –trk-: Mutations in the development of tumors and in the resistance to therapy with Trk inhibitors.
- Genetic Testing - Obesity (Obesity) - Genes NR0B2, POMC, GHRL, UCP1, CARTPT, ADRB2, ENPP1 I> (? PC1 I>), ADRB3, AGRP, LEP, LEPR, PPARG, SIM1, UCP3, MC4R, SDC3 I>, and PPARGC1B I>.
- Genetic testing - Obsessive-compulsive disorder – HTR2A and SLC6A4 genes.
- Genetic Testing - Ocular albinism - GPR143 gene.
- Genetic Testing - Oculo-facio-cardio-dental syndrome ..., (Oculofaciocardiodental syndrome) - Gen BCOR.
- Genetic Testing - oculocerebrofacial Kaufman syndrome ..., (Kaufman syndrome oculocerebrofacial) - Gen UBE3B.
- Genetic Testing - oculocutaneous albinism, Hermansky-Pudlak type 1 (HPS1) (oculocutaneous albinism, Hermansky-Pudlak syndrome) syndrome - Genes HPS1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S6, BLOC1S3 I> and > AP3B1 I>.
- Genetic Testing - oculodentodigital dysplasia (oculodentodigital dysplasia) - Gen GHA1.
- Genetic Testing - Oligodendroglioma - Deletion 1p / 19q.
- Genetic Testing - olivopontocerebellar atrophy (See Spinocerebellar ataxia type 1).
- Genetic Testing - Olivopontocerebellar Atrophy Type II or Holguin (See Spinocerebellar ataxia type 2, Spinocerebellar Atrophy Type 2, Spinocerebellar ataxia type Cuban; Syndrome Wadia-Swami) type.
- Genetic Testing - Ollier, disease ..., (Ollier disease) - Genes IDH1 I> or IDH2 I>.
- Genetic testing - Ollier, ... Syndrome (multiple Enchondromatosis) (See multiple Enchondromatosis, Ollier type).
- Genetic testing - Ondine-Hirschsprung's Disease ... (Ondine-Hirschsprung disease) (See hypoventilation Congenital Central).
- Genetic testing - Ondine syndrome ... (Ondine Syndrome) (See hypoventilation Congenital Central).
- Genetic testing - Onicopatelar syndrome ... (See Nail-Patella syndrome).
- Genetic Testing - Opitz G / BBB syndrome ...., (Opitz G / BBB syndrome) - Gen MID1.
- Genetic testing - Opitz syndrome ... (See DiGeorge syndrome ...).
- genetic testing - or primary hyperparathyroidism hereditary (Hereditary hyperparathyroidisms) - Genes CASR, MEN1 I> and HRPT2 I>.
- Genetic testing - Ornithine transcarbamylase deficiency - OTC gene.
- Genetic testing - Ornithine translocase deficiency – SLC25A15 gene.
- Genetic Testing - orotic aciduria syndrome ..., (Orotic aciduria Syndrome) - Gen UMPS >.
- Genetic testing - Osteoarthritis.
- Genetic Testing - osteochondritis dissecans family (osteochondritis dissecans Familial) - Gen ACAN.
- Genetic Testing - Osteochondroma (See Multiple exostoses hereditary types 1 and 2; Osteochondroma)
- Genetic testing - Osteodisplastia Melnick-Needles (See otopalatodigital types 1 and 2, syndrome ...).
- Genetic Testing - osteodysplasia lipomembranous Polycystic sclerosing leukoencephalopathy - PLOSP - (Polycystic lipomembranous osteodysplasia With sclerosing leukoencephalopathy -PLOSP-) - Genes TREM2 I> and TYROBP I> (DAP12).
- Genetic Testing - Osteogenesis imperfecta (Osteogenesis imperfect) - Genes COL1A1, COL1A2, CRTAP I> and LEPRE1.
- Genetic Testing - Osteosarcoma (Osteogenic sarcoma, osteosarcoma) - Genes RB1, TP53 I> and CHEK2.
- Genetic Testing - otopalatodigital types 1 and 2, ... syndrome (syndrome otopalatodigital types 1 and 2) - Gen FLNA I>.
- Genetic Testing - Otulipenia (Otulipenia) - Gen OTULIN I>.
- Genetic Testing - Ovarian cancer (ovarian cancer) - Genes BRCA1, BRCA2, MLH1, MSH2 I> and TP53 I>.
- Genetic Testing - Overgrowth fibroadipose FAO (Fibroadipose overgrowth) (See related overgrowths PIK3CA I>).
- Genetic Testing - overgrowths related PIK3CA I> (PROS: PIK3CA I> -related Spectrum Overgrowth) - Gen PIK3CA I>.
- Genetic testing - Pachyonychia congenital - KRT6A, KRT6B, KRT6C, KRT16 and KRT17 genes
- Genetic testing - PACS1 syndrome – PACS1 gene.
- Genetic Testing - Paget's Disease ..., (Paget disease of bone) - Genes SQSTM1, TNFRSF11A I> and TNFRSF11B I>.
- Genetic Testing - Pallister-Hall syndrome ..., (Pallister-Hall syndrome) - Gen GLI3 I>.
- Genetic Testing - Pallister-Hall syndrome ..., (Pallister-Hall syndrome) - Gen GLI3 I>.
- Genetic Testing - Pallister-Killian syndrome mosaic ..., (Pallister-Killian syndrome mosaic) - Chromosome 12.
- Genetic Testing - palmoplantar keratoderma with deafness (Palmoplantar keratoderma With deafness) - Gen GJB2 I> and MT-TS1.
- Genetic Testing - Pancreatitis inherited chronic (Hereditary pancreatitis) - Genes PRSS1, SPINK1, CTRC I> and CFTR I>.
- Genetic Testing - pantotenatoquinasa associated with neurodegeneration (Pantothenate kinase-associated neurodegeneration) - Gen PANK2.
- Genetic Testing - Pantotenatoquinasa, neurodegeneration associated with ...; HARP syndrome (Hypoprebetalipoprotinemia, Acanthocytosis, Retinitis Pigmentosa and pallidal degeneration) (See neurodegeneration associated with pantotenatoquinasa).
- Genetic testing - Papillon-Leage-Psaume syndrome ... (See Oro-facial-digital type 1 syndrome ...).
- Genetic testing - Paraganglioma Family Type 1 (See non-syndromic Paraganglioma).
- Genetic Testing - Paraganglioma nonsyndromic (nonsyndromic paraganglioma) - Genes VHL, RET, SDHB, SDHD, TMEM127, SDHA I>, and KIF1B I>.
- Genetic Testing - Paramyotonia congenita (paramyotonia congenita) - Gen SCN4A I>.
- Genetic testing - Parathyroid cancer - CDC73 gene.
- Genetic Testing - parietal foramina enlarged (parietal foramina Enlarged) - Genes ALX4 I> and MSX2 I>.
- Genetic Testing - Parkes Weber syndrome ..., (Parkes Weber syndrome) - Gen RASA1.
- Genetic Testing - Parkinson's Disease ..., (Parkinson disease) - Genes GBA, LRRK2, PARK2, PARK7, PINK1, SNCA I> and UCHL1.
- Genetic Testing - paroxysmal dyskinesia quinesigénica family (familial paroxysmal dyskinesia kinesigenic) - Gen PRRT2.
- Genetic testing - Paroxysmal nocturnal hemoglobinuria - PIG-A gene.
- Genetic Testing - Partial epilepsy autosomal dominant hearing phenomena (Autosomal dominant partial epilepsy With auditory features - ADPEAF-) - Gen LGI1.
- Genetic Testing - Partington syndrome - ARX gene.
- Genetic testing - Pelizaeus-Merzbacher Disease; Hypomyelinating leukodistrophy type 1 - PLP1 gene.
- Genetic testing - Pelizaeus-Merzbacher-like disease type 1 (PMLD1); Hypomyelinating leukodystrophy – GJC2 gene.
- Genetic testing - PEÑA- Shokeir type 1 syndrome ... (See arthrogryposis multiplex congenita).
- Genetic Testing - Pendred syndrome ..., (Pendred syndrome) - Gen SLC26A4 I>.
- Genetic Testing - periodic fever associated with TNF-alpha, Syndrome ..., (See factor receptor tumor necrosis associated periodic syndrome ...).
- Genetic testing - perioral Lentiginosis (See Peutz-Jeghers syndrome ...).
- Genetic testing - periorificial Lentiginosis (See Peutz-Jeghers syndrome ...).
- Genetic Testing - peripheral Neurofibromatosis (See Neurofibromatosis type 1, von Recklinghausen disease).
- Genetic testing - Periventricular heterotopia - ARFGEF2, FLNA, N EDD4L genes and chromosome 5..
- Genetic testing - Peroxisomal acyl-CoA oxidase deficiency - ACOX1 gene.
- Genetic Testing - Perrault syndrome ..., (Perrault syndrome) - Genes C10orf2, CLPP, HARS2, LARS2 or HSD17B4.
- Genetic Testing - Perry syndrome ..., (Perry syndrome) - Gen DCTN1 I>.
- Genetic Testing - persistent hyperinsulinemic hypoglycemia of infancy (Persistent hyperinsulinemia hypoglycemia of infancy) - Genes ABCC8, KCNJ11, GCK, GLUD1 HADH, HNF1A, HNF4A, SLC16A1 and UCP2 I>.
- Genetic Testing - Peter plus syndrome ..., (Peters plus syndrome) - Gen B3GALTL.
- Genetic Testing - Peters types I and II, Anomaly ..., (Peters anomaly) - Genes PAX6, PITX2, FOXC1 I> and CYP1B1 I>.
- Genetic Testing - Peutz-Jeghers syndrome ..., (intestinal polyposis skin pigmentation-syndrome ..., perioral lentigines; periorificial lentigines; Intestinal Polyposis II) (Peutz-Jeghers syndrome) - Gen STK11.
- Genetic testing - PGM3-congenital disorder of glycosylation – PGM3 gene.
- Genetic testing - Phenylketonuria - PAH gene.
- Genetic Testing - Pheochromocytoma (Pheochromocytoma) - Genes VHL, NF1, RET, SDHA, SDHB, SDHC, SDHD I> and TMEM127 >.
- Genetic testing - phosphoglycerate mutase deficiency of ... (See gluconeogenesis type X) (X Glycogen storage disease, Phosphoglycerate mutase deficiency).
- Genetic Testing - Piebaldism (piebaldism) - Genes KIT I> and SNA12.
- Genetic testing - Pierre Robin sequence, Isolated ..., - SOX9 gene.
- Genetic testing - pigmentary incontinence (See Incontinentia pigmenti).
- Genetic Testing - Pignodisóstosis (pycnodysostosis) - Gen CTSK.
- Genetic Testing - Pitt-Hopkins syndrome ..., (Pitt-Hopkins syndrome) - Gen TCF4.
- Genetic Testing - Pituitary adenoma familial isolated syndrome ..., (Familial isolated pituitary adenoma-FIPA -) - Gen AIP I>.
- Genetic testing - pituitary dwarfism (See Growth hormone types IA, IB, II and III deficiency Isolated ...).
- Genetic Testing - Pituitary Hormones, combined deficiency ..., (Combined pituitary hormone deficiency -CPHD-) - Genes PROP1, POU1F1, HESX1, LHX3, LHX4, SOX2, Sox3 GLI2 I> and OTX2 < / I>.
- Genetic Testing - Plasminogen, ... congenital deficiency (Congenital plasminogen deficiency) - Gen PLG.
- Genetic testing - PLCG2-associated antibody deficiency and immune dysregulation – PLCG2 gene.
- Genetic testing - Poikiloderma with neutropenia - USB1 gene.
- Genetic Testing - Poland Syndrome ..., (Poland syndrome).
- Genetic testing - Poliglucosan adult, body disease ... (Adult polyglucosan body disease) - Gen GBE1 I>.
- Genetic testing - Polycystic kidney disease (See polycystic kidney, disease ...).
- Genetic testing - Polycystic Kidney (See polycystic kidney, disease ...).
- Genetic Testing - Polycystic liver, disease ..., (Polycystic liver disease) - Genes PRKCSH I> and Sec63
- Genetic testing - Polycystic ovary syndrome.
- Genetic Testing - Polycythemia vera (polycythemia vera) - Genes JAK2 I> and TET2 I>.
- Genetic Testing - Polyglandular autoimmune type 1 syndrome ..., - AIR gene.
- Genetic Testing - Polymicrogyria (polymicrogyria) - Gen GPR56.
- Genetic testing - Pompe disease ... (see type II gluconeogenesis).
- Genetic Testing - pope syndrome ..., (recurrent arthritis family) (PAPA syndrome, Familial recurrent arthritis) - Gen PSTPIP1.
- Genetic testing - Porphyria ALA dehydratase deficiency (See porphyrias).
- Genetic testing - Porphyria cutanea tarda (PCT) - (See porphyrias).
- Genetic testing - Porphyria - erythropoietic Protoporphyria (EPP) - (See porphyrias)
- Genetic testing - Porphyria Hepatoerythropoietic (See porphyrias).
- Genetic Testing - Porphyria - hereditary coproporphyria (CH) - (See porphyrias).
- Genetic testing - Porphyria of Doss - (See porphyrias).
- Genetic Testing - Porphyria variegata (PV) - (See porphyrias).
- Genetic testing - Potocki-Lupski syndrome - RAI1 gene and chromosome 17.
- Genetic Testing - Potocki-Shaffer syndrome ...; 11p deletion syndrome (Potocki-Shaffer syndrome) - Genes EXT2, ALX4 I> and phf21a I>.
- Genetic testing - Potter, disease ... (See polycystic kidney, disease ...).
- Genetic testing - PPM-X syndrome ... (See related severe neonatal encephalopathy MECP2).
- Genetic testing - PPP2R5D-related intellectual disability - PPP2R5D gene.
- Genetic Testing - Prader-Willi syndrome ..., (Prader-Willi syndrome) - Gen OCA2 I> and chromosome 15.
- Genetic testing - Pre-excitation ventricular arrhythmia (See Wolff-Parkinson-White syndrome ...).
- Genetic Testing - Preeclampsia (Preeclampsia) - Genes Corin EPHXI I> and STOX1 I>.
- Genetic Testing - Prekallikrein deficiency of ..., (prekallikrein deficiency) - Gen KLKB1 I>.
- Genetic Testing - primary adrenal hyperplasia macronodular (Primary macronodular adrenal hyperplasia - PMAH-) - Genes ARMC5 I> and GNAS.
- Genetic Testing - Primary ciliary dyskinesia (Primary ciliary dyskinesia) - Genes DNA11 I> and DNAH5.
- Genetic testing - Primary familial brain calcification – SLC20A2 and PDGFRB genes.
- Genetic testing - Primary hyperoxaluria - AGXT, GRHPR and HOGA1 genes.
- Genetic Testing - primary ovarian failure associated with fragile X (Fragile X-associated primary ovarian insufficiency) - Gen FMR1 I>.
- Genetic testing - Primary Spontaneous Pneumothorax (primary spontaneous pneumothorax View).
- Genetic Testing - Prions, Disease ..., (Prion disease: Creutzfeldt-Jakob disease -CJD-, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia -GSS- -FFI-) - Gen PRNP.
- Genetic Testing - Progeria Nestor-William syndrome ..., (Nestor-Guillermo Progeria syndrome) - Gen BANF1.
- Genetic Testing - progressive external ophthalmoplegia (Progressive external ophthalmoplegia) - Genes POLG, C10orf2, rrm2b, SLC25A4 I> and MT-TL1 I>.
- Genetic Testing - progressive intrahepatic cholestasis type 1, 2 and 3 (Progressive Familial Intrahepatic cholestasis types 1, 2 and 3 -PFIC1, PFIC2 and PFIC3-) - Genes ATP8B1, ABCB11 I> and ABCB4 I>.
- Genetic Testing - progressive myoclonic epilepsy Unverricht-Lundborg of (Unverricht-Lundborg disease, Progressive myoclonus epilepsy) - Gen CSTB.
- Genetic Testing - progressive myoclonic epilepsy with ataxia related PRICKLE1 (PRICKLE1 - progressive myoclonus epilepsy related With ataxia) - Gen PRICKLE1.
- Genetic Testing - progressive myoclonus Lafora disease (Lafora progressive myoclonus epilepsy) - Genes EPM2A I> and NHLRC1 I>.
- Genetic testing - Progressive osseous heteroplasia - GNAS gene.
- Genetic Testing - Progressive supranuclear palsy (Progressive supranuclear palsy) - Gen MAPT I>.
- Genetic Testing - Prolidase, deficiency ..., (Prolidase deficiency) - Gen DPEP I>.
- Genetic testing - Propionic acidemia - PCCA and PCCB genes.
- Genetic Testing - Protein C deficiency, ..., (Protein C deficiency) - Gen PROC >.
- Genetic Testing - Protein S deficiency, ..., (Protein S deficiency) - Gen PROS1.
- Genetic Testing - Proteus syndrome (Proteus syndrome) - Gen AKT1.
- Genetic testing - Prothrombin deficiency, ..., (Prothrombin deficiency) - Gen F2.
- Genetic testing - Proximal 18q deletion syndrome - Chromosome 18.
- Genetic Testing - proximal renal tubular acidosis with ocular abnormalities and mental retardation (Renal tubular acidosis, proximal, with ocular abnormalities and Mental retardation -pRTA-OA) - Gen SLC4A4.
- Genetic Testing - pseudoachondroplasia (pseudoachondroplasia) - Gen COMP.
- Genetic Testing - pseudocholinesterase, deficiency ..., (Pseudocholinesterase deficiency) - Gen BCHE.
- Genetic Testing - pseudohypoaldosteronism type 1, renal and systemic - Genes NR3C2, SCNN1A, SCNN1B I> and SCNN1G I>.
- Genetic Testing - pseudohypoaldosteronism type 2 (Gordon syndrome) (Pseudohypoaldosteronism type II; Gordon Syndrome) - Genes WNK1, WNK4 Cul3 I> or KLHL3 I>.
- Genetic Testing - Pseudohypoparathyroidism types Ia, Ib, Ic and II; Albright hereditary osteodystrophy of (AHO); Pseudopseudohypoparathyroidism (Pseudohypoparathyroidism -PHP- types Ia, Ib, Ic and II, Albright hereditary osteodistrophy) - Gen GNAS
- Genetic testing - pseudopseudohypoparathyroidism (See Pseudohypoparathyroidism types Ia, Ib, Ic and II).
- Genetic Testing - Pseudoxanthoma elasticum (Pseudoxanthoma elasticum, Groendblad-Strandberg syndrome, PXE) - Gen ABCC6 I>.
- Genetic Testing - Pterygium popliteal syndrome ..., (Popliteal pterygium syndrome) - Gen IRF6.
- Genetic testing - Pulmonary alveolar microlithiasis - SLC34A2 gene.
- Genetic Testing - Pulmonary arterial hypertension (Pulmonary arterial hypertension) - Gen BMPR2 I>.
- Genetic Testing - Pulmonary veno-occlusive, disease ..., (veno-occlusive disease Pulmonary) - Gen EIF2AK4.
- Genetic testing - PURA syndrome - PURA gene.
- Genetic testing - Purine nucleoside phosphorylase deficiency – PNP gene.
- Genetic testing - PXE (See elastic Pseudoxanthoma; Groendblad-Strandberg syndrome ...).
- Genetic testing-Pyridoxal 5´-phosphate-dependent epilepsy - PNPO gene.
- Genetic testing - Pyridoxine-dependent epilepsy - ALDH7A1 gene.
- Genetic testing - Pyruvate carboxylase deficiency - PC gene
- Genetic Testing - Pyruvate dehydrogenase deficiency of ...; Complex deficiency pyruvate dehydrogenase; Lactic Acidosis pyruvate dehydrogenase deficiency (Pyruvate dehydrogenase deficiency, pyruvate dehydrogenase complex deficiency
- Genetic Testing - q minus, 5q minus syndrome, (5q minus syndrome) - Genes MIR145, MIR146A, RPS14 I> and chromosome 5.
- Genetic testing - RAB18 deficiency; Warburg Microsyndrome; Martsolf syndrome – RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 gene.
- Genetic Testing - Rabson-Mendenhall syndrome ..., (Rabson-Mendenhall syndrome) - Gen INSR.
- Genetic Testing - Radial-ray Duane syndrome ..., (Duane-radial ray syndrome) - Gen Sall4.
- Genetic testing - Leptin receptor deficiency - LEPR gene.
- Genetic Testing - Receptor tumor necrosis factor, associated periodic syndrome ..., (Tumor necrosis factor receptor-associated periodic syndrome -TRAPS-) - Gen TNFRSF1A I>.
- Genetic Testing - recessive juvenile Parkinson (Parkinson disease form of Juvenile) - Gen PARK2.
- Genetic testing - Reed syndrome ... (See leiomyomata and hereditary renal cancer).
- Genetic Testing - Refsum Disease ..., (Refsum disease) - Genes PHYH I> and PEX7 I>.
- Genetic testing - Reinfenstein syndrome ... (See androgen insensitivity syndrome ...).
- Genetic Testing - related macular degeneration with age (Age-related macular degeneration) - Genes ARMS2, CFH I> and HTRA1 I>.
- Genetic Testing - related sclerosing bone dysplasia with SOST (Sclerosteosis and Van Buchem disease) (SOST sclerosing bone dysplasia-related) - Gen SOST I>.
- Genetic testing - Renal agenesis (See: Congenital anomalies of the kidney and urinary tract (CAKUT).
- Genetic Testing - renal Coloboma, ... Syndrome (Syndrome papillorenal) (Renal coloboma syndrome) - Gen PAX2 I>.
- Genetic testing - Renal hypouricemia - SLC2A9 or SLC22A12 gene.
- Genetic Testing - Renal related REN, disease ..., (REN-related kidney disease) - Gen REN I>.
- Genetic Testing - (- renal tubular acidosis distal Associated Syndrome SLC4A1 I>) - distal renal tubular acidosis associated with SLC4A1 I>, ... syndrome, Gen SLC4A1 I >.
- Genetic Testing - Renal tubular dysgenesis ..., (Renal tubular dysgenesis) - Genes ACE, AGT, AGTR1 I> and REN.
- Genetic Testing - renal tubular dysgenesis (Renal tubular dysgenesis) (See Renal tubular dysgenesis).
- Genetic testing - Rendu-Osler-Weber syndrome ... (Hemorrhagic Telangiectasia See hereditary).
- Genetic Testing - Renpenning syndrome ..., (Renpenning syndrome) - Gen PQBP1 I>.
- Genetic testing - Resistance to thyroid hormone (see Thyroid hormones, generalized resistance to thyroid hormones).
- Genetic testing - Restless legs syndrome.
- Genetic Testing - retinal arterial macroaneurysm with supravalvular pulmonary stenosis (arterial Retinal macroaneurysm With supravalvular pulmonic stenosis -RAMSVPS-) - Gen IGFBP7.
- Genetic Testing - Retinitis pigmentosa (retinitis pigmentosa) - Genes RHO, USH2A, RPGR I> and RP2 I>.
- Genetic testing - Retinoblastoma - MYCN, RB1 genes and chromosome 13.
- Genetic testing - Rett syndrome ... (Rett syndrome) (See severe neonatal encephalopathy related MECP2).
- Genetic testing - Revesz syndrome ... (See dyskeratosis congenita).
- Genetic testing - Rhabdoid tumor predisposition syndrome – SMARCB1 and SMARCA4 genes.
- Genetic Testing - Rheumatoid arthritis (Rheumatoid arthritis) - Genes HLA-DRB1, SLC22A4, PTPN22 (PTPN8), CIITA (MHC2TA), IRF5 I> and NFKBIL1.
- Genetic testing - Riboflavin transporter deficiency neuronopathy - SLC52A2 or SLC52A3 genes
- Genetic testing - Rieger, disease ... (See Axenfeld-Rieger, disease ...).
- Genetic testing - Rigid spine muscular dystrophy – SELENON (SEPN1) gene.
- Genetic testing - Roberts syndrome – ESCO2 gene.
- Genetic testing - Robinow syndrome - ROR2, FZD2, WNT5A, DVL1 and DVL3.
- Genetic testing - Romano-Ward syndrome ... (See Long QT types 1 to 13).
- Genetic testing - Rosacea – HLA-DQA1, HLA-DQB1, HLA-DRB1, GSTM1<{/I> and GSTT1 genes.
- Genetic testing - Rosenberg-Chutorian syndrome ... (See Charcot-Marie-Tooth disease type 5).
- Genetic Testing - Rothmund-Thomson syndrome ... (Rothmund-Thomson syndrome) - Gen RECQL4.
- Genetic testing - Roussy-Levi (See Charcot-Marie-Tooth).
- Genetic Testing - Rubinstein-Taybi syndrome ..., - (Rubinstein-Taybi syndrome) - Genes CREBBP I> and EP300
- Genetic testing - Russel - Silver Syndrome - Genes H19, IGF2 and methylation of IC1.
- Genetic Testing - Saethre-Chotzen syndrome ..., (Saethre-Chotzen syndrome) - Genes TWIST1 I> and FGFR2.
- Genetic Testing - Sandhoff disease ..., (GM2 gangliosidosis) (Sandhoff disease) - Gen HEXB.
- Genetic testing - SANDO - Sensory ataxic neuropathy, dysarthria and ophthalmoplegia (sensory neuropathy ataxia dysarthria and ophthalmoplegia -SANDO-) (See ataxic neuropathy, Espectrum).
- Genetic testing - Sanfilippo syndrome ... (See Mucopolysaccharidosis type III).
- Genetic testing - Scheie syndrome ... (See Hurler syndrome).
- Genetic testing - Schilder-Addison's Disease ... (See X-linked adrenoleukodystrophy)
- Genetic testing - Schinzel-Giedion syndrome – SETBP1 gene.
- Genetic Testing - Schizencephaly (Schizencephaly) - Genes SIX3, SHH, EMX2 I> and COL4A1.
- Genetic Testing - Schwannomatosis (Schwannomatosis) - Genes SMARCB1, LZTR1 I> and NF2 I>.
- Genetic Testing - Schwartz-Jampel syndrome ..., (Schwartz-Jampel syndrome) - Gen HSPG2 I>.
- Genetic Testing - Sclerosteosis (See sclerosing bone dysplasia related SOST).
- Genetic testing - SCN8A-related epilepsy with encephalopathy - SCN8A gene
- Genetic testing - Seasonal affective disorder - ARNTL, CLOCK, CRY2, HTR2A, NPAS2, OPN4 and PER2 genes
- Genetic testing - Sebastian syndrome ... (See macrothrombocytopenia and progressive deafness).
- Genetic testing - Segawa, disease ... (See GTP-cyclohydrolase I (GTPCH I), deficiency ...).
- Genetic testing - Senior-Loken syndrome ... (See Nephronophthisis).
- Genetic Testing - sensory ataxia with epilética myopathy -MEMSA- (Myoclonic epilepsy myopathy sensory ataxia -MEMSA-) - Gen POLG.
- Genetic Testing - sepiapterin reductase deficiency ..., (sepiapterin reductase deficiency) - Gen SPR I>.
- Genetic Testing - Serkal syndrome ..., - (Serkal Syndrome) - Gen WNT4.
- Genetic testing - SETBP1 disorder – SETBP1 gene.
- Genetic Testing - seudoinflamatoria Sorsby fundus Dystrophy (Fundus Dystrophy psudoinflammatory of Sorsby) - Gen TIMP3.
- Genetic Testing - Severe combined immunodeficiency, autosomal recessive, negative T cells, B cells negative, positive NK cells (severe combined immunodeficiency, autosomal recesive, T negative, B negative, positive NK) -genes RAG1 I> and < I> RAG2
- Genetic testing - JAK3-deficient combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell negative – JAK3 gene.
- Genetic Testing - Severe combined immunodeficiency, autosomal recessive, T cells negative, B cells positive, NK cells positive - PTRRC and IL7R genes.
- Genetic Testing - severe combined immunodeficiency due to adenosine deaminase deficiency (Severe combined immunodeficiency due to adenosine deaminase deficiency) - Gen ADA I>.
- Genetic testing - Severe combined immunodeficiency, X-linked (X-linked severe combined immunodeficiency) - IL2RG gene.
- Genetic testing - Severe congenital neutropenia; Congenital agranulocitosis - ELANE and HAX1 genes.
- Genetic Testing - severe infantile myoclonic epilepsy; Dravet syndrome ..., (Severe myoclonic epilepsy of infancy, Dravet syndrome) - Gen SCN1A I>.
- Genetic testing - severe neonatal hyperparathyroidism (See hereditary or primary hyperparathyroidism).
- Genetic Testing - severe paroxysmal pain (Paroxysmal extreme pain disorder) - Gen SCN9A.
- Genetic testing - Sézary syndrome.
- Genetic Testing - Sheldon-Hall syndrome ..., (See distal arthrogryposis type 2B).
- Genetic testing - Shingles.
- Genetic Testing - short chain acyl-CoA dehydrogenase deficiency of ..., (Short-chain acyl-CoA dehydrogenase deficiency -SCAD-) - Gen ACADS I>.
- Genetic testing - Short QT syndrome - KCNH2, KCNJ2 and KCNQ1 genes.
- Genetic Testing - Shprintzen-Goldberg Syndrome, ..., (Shprintzen-Goldberg syndrome) - Gen SKI.
- Genetic Testing - Shprintzen-Goldberg Syndrome, ..., (Shprintzen-Goldberg syndrome) - Genes SKI I> and FBN1 I>.
- Genetic testing - Shprintzen syndrome ... (See DiGeorge syndrome ...).
- Genetic Testing - Shwachman-Diamond syndrome ..., (Shwachman-Diamond syndrome) - Gen SBDS.
- Genetic Testing - Sialuria (Sialuria) - Gen GNE.
- Genetic testing - Sickle cell anemia - (View Sickle cell disease).
- Genetic Testing - Sickle cell, disease ..., (sickle cell) (Sickle cell disease) - Gen HBB.
- Genetic testing - Siemerling-Creutzfeldt disease ... (See X-linked adrenoleukodystrophy)
- Genetic Testing - Silver-Russell syndrome ..., (Silver-Russell syndrome) - Gen BSCL2.
- Genetic testing - Simpson-Golabi-Behmel syndrome - GPC3 gene.
- Genetic Testing - Sinus sick syndrome ..., (sick sinus syndrome) - Genes SCN5A, MYH6 I> and HCN4.
- Genetic Testing - Sitosterolemia (Sitosterolemia) - Genes ABCG5 I> or ABCG8 I>.
- Genetic Testing - Sjögren-Larsson syndrome ..., (Sjögren-Larsson Syndrome) - Gen ALDH3A2 I>.
- Genetic Testing - Sjögren syndrome ..., (Sjogren syndrome).
- Genetic Testing - Skeletal dysplasia Eiken (Eiken skeletal dysplasia -EISD-) - Gen PTH1R.
- Genetic Testing - Skeletal dysplasia related CHST3 (CHST3-related skeletal dysplasia) - Gen CHST3.
- Genetic Testing - Sly syndrome (Mucopolysaccharidosis type VII, Sly syndrome) - Gen GUSB.
- Genetic testing - Sly syndrome ... (See Sly syndrome).
- Genetic Testing - small fiber neuropathy (Small fiber neuropathy) - Genes SCN9A I> or SCN10A I>.
- Genetic Testing - Small related cerebral vessels with COL4A1, disease ..., (COL4A1-related brain small-vessel disease) - Gen COL4A1 I>.
- Genetic testing - Smith-Kingsmore syndrome – MTOR gene.
- Genetic Testing - Smith-Lemli-Opitz syndrome ..., (Smith Lemli-Opitz Syndrome-) - Gen DHCR7.
- Genetic testing - Smith-Magenis syndrome - RAI1 gene.
- Genetic Testing - Snyder-Robinson syndrome ..., (Snyder-Robinson syndrome) - Gen SMS I>.
- Genetic Testing - Somatotropinoma (Somatotropinoma) - Gen GNAS I>.
- Genetic Testing - Sotos syndrome ..., (Sotos syndrome) - Gen NSD1.
- Genetic Testing - Spastic Ataxia Charlevoix-Saguenay (Spastic ataxia of Charlevoix-Saguenay -ARSACS-) - Gen SACS I>.
- Genetic Testing - Spastic paralysis ascending childhood-onset (Infantile onset ascending hereditary spastic paralysis) - Gen ALS2 I>.
- Genetic Testing - spastic paraplegia type 2 family (Spastic paraplegia type 2 -SPG2-) - Gen PLP1.
- Genetic testing - Spastic paraplegia type 49 - TECPR2 gene.
- Genetic testing - Spastic paraplegia type 5A - CYP7B1 gene.
- Genetic Testing - Spina bifida (spina bifida) - Gen MTHFR.
- Genetic testing - spinal muscular atrophy associated with the X chromosome (See spinal muscular atrophy types I, II, III, IV, ...).
- Genetic Testing - Spinal Muscular Atrophy dominant (See Spinal muscular atrophy type I, II, III, IV, ...).
- Genetic Testing - Spinal muscular atrophy progressive myoclonic epilepsy (Spinal muscular atrophy progressive myoclonic epilepsy With) - Gen ASAH1 I>.
- Genetic testing - Spinal muscular atrophy types 0, I, II, III and IV – SMN1 and SMN2 genes.
- Genetic testing - Spinal muscular atrophy with lower extremity predominance; Kugelberg-Welander, Syndrome – DYNC1H1 and BICD2 genes.
- Genetic testing - Spinal muscular atrophy with respiratory distress type 1 (SMARD1) - IGHMBP2 gene.
- Genetic Testing - Spinocerebellar ataxia childhood-onset -IOSCA- (spinocerebellar ataxia Infantile onset -IOSCA-) - Gen C10orf2.
- Genetic Testing - Spinocerebellar ataxia type 1 (Spinocerebellar Ataxia Type 1 -SCA1-) - Gen ATXN1 I>.
- Genetic Testing - Spinocerebellar ataxia type 10 (SCA10) (Spinocerebellar ataxia type 10) - Gen ATXN10 I>.
- Genetic testing - Spinocerebellar ataxia type 11 (SCA11) – TTBK2 gene.
- Genetic Testing - spinocerebellar ataxia type 12 (SCA12) (Spinocerebellar ataxia type 12) - Gen PPP2R2B I>.
- Genetic Testing - Spinocerebellar ataxia type 13 (SCA13) (Spinocerebellar ataxia type 13) - Gen KCNC3 I>.
- Genetic Testing - Spinocerebellar ataxia type 14 (SCA14) (Spinocerebellar ataxia type 14) - Gen PRKCG I>.
- Genetic Testing - Spinocerebellar ataxia type 17 (type 4-like Huntington's Disease ... -HLD4-) Spinocerebellar Ataxia Type 17 (Huntington disease-like 4 -HDL4-) - Gen TBP I>.
- Genetic Testing - Spinocerebellar ataxia type 2 -SCA2- (olivopontocerebellar atrophy type II or type Holguin; Atrophy Type 2 spinocerebellar; Spinocerebellar ataxia type Cuban; Syndrome Wadia-Swami) - Gen ATXN2 I>.
- Genetic Testing - Spinocerebellar ataxia type 27 (SCA27) (Spinocerebellar ataxia type 27) - Gen FGF14 I>.
- Genetic testing - Spinocerebellar ataxia type 3 (Machado-Joseph disease, Spinocerebellar atrophy III; Spinopontin atrophy; Azores neurologic disease; Nigrospinodentatal Degeneration) - ATXN3 gene.
- Genetic Testing - Spinocerebellar ataxia type 36 (SCA36) (Spinocerebellar ataxia type 36) - Gen NOP56 I>.
- Genetic Testing - Spinocerebellar ataxia type 5 (SCA5) (Spinocerebellar ataxia type 5) - Gen SPTBN2 I>.
- Genetic Testing - Spinocerebellar ataxia type 6 (SCA6) (Spinocerebellar ataxia type 6) - Gen CACNA1A I>.
- Genetic Testing - Spinocerebellar ataxia type 7 (SCA7) (Spinocerebellar ataxia type 7) - Gen ATXN7 I>.
- Genetic Testing - Spinocerebellar ataxia type 8 (SCA8) (Spinocerebellar ataxia type 8) - Gen ATXN8OS I>.
- Genetic Testing - Spinocerebellar ataxia type Cuban (See Spinocerebellar ataxia type 2, olivopontocerebellar atrophy type II or type Holguin, Spinocerebellar Atrophy Type 2, Syndrome Wadia-Swami).
- Genetic Testing - spinocerebellar atrophy type 1 (See Spinocerebellar ataxia type 1).
- Genetic Testing - spinocerebellar atrophy type 2 (See Spinocerebellar ataxia type 2, olivopontocerebellar atrophy type II or type Holguin, Spinocerebellar ataxia type Cuban; Wadia-Swami syndrome).
- Genetic Testing - spinocerebellar atrophy type 3 (See Spinocerebellar ataxia type 3).
- Genetic testing - Spondylocarpotarsal synostosis syndrome) - FLNB and MYH3 genes.
- Genetic Testing - Spondylocostal dysostosis (Spondylocostal dysostosis) - Genes DLL3, Hes7, LFNG, MESP2, RIPPLY2 I> and TBX6 I>.
- Genetic Testing - spontaneous pneumothorax primary (Primary spontaneous pneumothorax) - Gen FLCN I>.
- Genetic testing - Sporadic hemiplegic migraine - ATP1A2 and CACNA1A genes.
- Genetic testing - Stargardt macular degeneration ... (Stargardt macular degeneration) (See macular degeneration Stardgardt).
- Genetic Testing - Steatocystoma multiple (steatocystoma multiplex) - Gen KRT17 I>.
- Genetic testing - Steinert, myotonic dystrophy ... (Steinert's disease) (See myotonic dystrophy)
- Genetic testing - Stevens-Johnson syndrome; Toxic epidermal necrolysis - HLA-B gene.
- Genetic Testing - Stickler syndrome ..., (Stickler syndrome) - Genes COL2A1, COL9A1, COL9A2, COL9A3, COL11A1 I> and COL11A2 I>.
- Genetic Testing - Stüve-Wiedemann syndrome ..., (Stüve-Wiedemann syndrome) - Gen LIFR I>.
- Genetic testing - Sturge-Weber syndrome (SWS) - GNAQ gene.
- Genetic testing - Stuve-Wiedemann syndrome (STWS) (See Schwartz-Jampel syndrome ...).
- Genetic testing - STXBP1 encephalopathy with epilepsy – STXBP1 gene.
- Genetic testing - Subcortical band heterotopia - DCX or PAFAH1B1 genes.
- Genetic Testing - sucrase-isomaltase congenital deficiency ..., (sucrase-isomaltase deficiency Congenital) - Gen IF I>.
- Genetic Testing - sudden cardiac death (Sudden Cardiac Death).
- Genetic Testing - Sudden Infant Death with testicular dysgenesis syndrome ..., (sudden infant death With dysgenesis of the testes syndrome -SIDDT-) - Gen TSPYL1.
- Genetic Testing - Supravalvular Aortic Stenosis (Supravalvular aortic stenosis) - Gen ELN.
- Genetic Testing - Surfactant dysfunction - SFTPB, SFTPC, ABCA3, CSF2RA and CSF2RB genes.
- genetic testing - Susceptibility to mycobacterial infections linked to X (X-linked susceptibility to mycobacterial disease) - Gen IKBKG.
- Genetic testing - Swyer syndrome - (see Gonadal dysgenesis XY).
- Genetic Testing - synuclein alpha (alpha synuclein-) (Parkinson's disease early-onset multisystem atrophy or Dementia with Lewy bodies) (See Parkinson early onset).
- Genetic testing - Systemic mastocytosis - KIT, ASXL1, DNMT3A, RUNX1, SRSF2 and TET2 genes.
- Genetic Testing - Systemic scleroderma (systemic scleroderma) - Genes IRF5 I> and STAT4 I>.
- Genetic Testing - T cell immunodeficiency, congenital alopecia and nail dystrophy (T-cell immunodeficiency, congenital alopecia and nail dystrophy) - Gen FOXN1.
- Genetic testing - Tarui, disease ... (See Glycogenoses type VII, Tarui disease).
- Genetic Testing - Tay-Sachs Disease ..., (Tay Sachs disease) - Gen HEXA I>.
- Genetic Testing - tetrahydrobiopterin deficiency ..., (Tetrahydrobiopterin deficiency) - Genes GCH1, PCBD1, PTS I> and QDPR I>.
- Genetic Testing - thalassemia (beta-thalassemia, beta thalassemia minor, thalassemia intermedia and beta beta thalassemia major) (See Beta Thalassemia).
- Genetic testing - Thalassemias (See alpha thalassemia and beta thalassemia).
- Genetic Testing - thiopurine S-methyltransferase (See thiopurines, toxicity to ...).
- Genetic Testing - thiopurine S-methyltransferase -TPMT-, deficiency ..., (See thiopurines, toxicity to ...).
- Genetic Testing - thiopurines toxicity (See thiopurines, toxicity to ...; Deficiency thiopurine S-methyltransferase of -TPMT-).
- Genetic Testing - thiopurines, toxicity to ...; Deficiency thiopurine S-methyltransferase (thiopurine S-methyltransferase deficiency -TPMT-) - Gen TPMT I>
- Genetic testing - Thomsen, disease ... (See myotonia congenita, Thomsen disease and Becker). (Congenital Myotonia, Thomsen disease and Becker disease).
- Genetic testing - thrombocyte hemorrhagic Dystrophy (See Bernard-Soulier syndrome ...).
- Genetic Testing - Thrombocytopenia family purpura, Purple ..., (Thrombotic thrombocytopenic purpura) - Gen ADAMTS13.
- Genetic Testing - Thrombophilia by prothrombin (See Thrombophilia protrombinémica).
- Genetic Testing - Thrombophilia for factor V Leiden (Factor V Leiden thrombophilia) - Gen F5 I>.
- Genetic Testing - Thrombophilia protrombinémica (Prothrombin thrombophilia) - Gen F2 I>.
- Genetic Testing - Thyroid hormones, generalized resistance to thyroid hormones (thyroid hormone resistance Generalized -GTHR-) - Gen THRB I>.
- Genetic Testing - tibial muscular dystrophy (Tibial muscular dystrophy) - Gen TTN.
- Genetic Testing - Tietz syndrome ..., (Tietz syndrome) - Gen MITF I>.
- Genetic Testing - Timothy syndrome ..., (Timothy syndrome) - Gen CACNA1C.
- Genetic Testing - Tourette syndrome ..., (Tourette syndrome) - Gen SLITRK1.
- Genetic Testing - Townes-Brocks syndrome ..., (Townes-Brocks Syndrome) - Gen SALL1.
- Genetic Testing - transcobalamin, deficiency ..., (Transcobalamin deficiency) - Gen TCN2.
- Genetic testing - transthyretin amyloidosis type I (See transthyretin amyloidosis).
- Genetic Testing - TRAPS (Tumor necrosis factor receptor-associated periodic syndrome) (See factor receptor tumor necrosis associated periodic syndrome ...).
- Genetic Testing - Treacher Collins 1, 2 and 3, Syndrome ..., (Treacher Collins Franceschetti-syndrome ..., Franceschetti-Zwahlen-Klein syndrome ..., mandibulofacial dysostosis -MFD1-; Dysplasia cigoauromandibular) (Treacher Collins syndrome) - genes
- Genetic testing - Trichorhinophalangeal syndrome type I - TRPS1 gene.
- Genetic testing - Trichorhinophalangeal syndrome type II - EXT1, TRPS1 and RAD21 genes and Chromosome 8.
- Genetic Testing - Trichothiodystrophy (trichothiodystrophy) - Genes ERCC2, ERCC3, GTF2H5 I> and MPLKIP.
- Genetic Testing - Trico-rhino-phalanga (Langer Giedion-) syndrome ..., (Langel-Giedion Syndrome) - Genes TRPS1, EXT1 and chromosome 8.
- Genetic Testing - trifunctional mitochondrial protein, deficiency ..., (trifunctional protein deficiency Mitochondrial) - Genes HADHA I> and HADHB I>.
- Genetic Testing - Trimethylaminuria (Trimethylaminuria) - Gen FMO3.
- Genetic Testing - triosephosphate isomerase deficiency ..., (Triosephosphate isomerase deficiency) - Gen TPI1 I>.
- Genetic testing - Triple A syndrome ...; Allgrove syndrome ..., (Triple A syndrome, Allgrove syndrome) - Gen AAAS I>.
- Genetic testing - Triple X syndrome ... (Triple X syndrome) - Chromosome X.
- Genetic Testing - Trisomy 18 (Trisomy 18) - Chromosome 18.
- Genetic testing - TRNT1 deficiency; Retinitis pigmentosa and erythrocytic microcytosis; TRNT1 related immunideficiency - TRNT1 gene.
- Genetic testing - TUBB4A-related leukodystrophy - TUBB4A gene.
- Genetic Testing - Tuberous Sclerosis (Tuberous sclerosis complex) - Genes TSC1 I> and TSC2 I>.
- Genetic testing - Turne syndrome; Ullrich-Turner syndrome, X Monosomy - SHOX gene and X chromosome.
- Genetic testing - Nephrotic type 3 syndrome - PLCE1 gene.
- Genetic Testing - Tyrosine hydroxylase deficiency of ..., (Tyrosine hydroxylase deficiency) - Gen TH I>.
- Genetic Testing - tyrosinemia type 1, 2, 3 - (Tyrosinemia types 1, 2 and 3) Genes FAH, TAT, HPD.
- Genetic Testing - Ulcerative colitis (ulcerative colitis) - Genes ABCB1, IL10RA, IL10RB, IL23R, IRF5 I> or PTPN2 I>.
- Genetic Testing - Ullrich congenital muscular dystrophy (Ullrich congenital muscular dystrophy) - Genes COL6A1, COL6A2 I> and COL6A3.
- Genetic testing - Ullrich-Turner syndrome ... (See Turner syndrome ...)
- Genetic testing - UNC80 deficiency; Infantile hypotonia with psychomotor retardation; IHPRF2 syndrome - NC80 gene.
- Genetic testing - Unverricht-Lundborg disease ... (See progressive myoclonus epilepsy Unverricht-Lundborg).
- Genetic testing - uromodulin, renal disease associated with ... (Uromodulin-associated kidney disease) (See hyperuricemic uromodulin associated nephropathy).
- Genetic testing - Urticaria pigmentosa (cutaneous mastocytosis View).
- Genetic testing - Usher types I, II and III syndrome - MYO7A, CDH23, USH2A and CLRN1> genes.
- Genetic testing - VACTERL Association (vertebral abnormalities, anal atresia, cardiac, tracheoesophageal, Kidney, Limbs-LIMB) (VACTERL Association).
- Genetic testing - Van Bogaert-Scherer-Epstein, disease ... (See Cerebrotendinous Xanthomatosis).
- Genetic testing - Van Buchem, disease ... (See related sclerosing bone dysplasia SOST).
- Genetic testing - Van der Knaap disease ... (See leukoencephalopathy with subcortical cysts megalencefálica).
- Genetic Testing - Van der Woude syndrome ..., (Van der Woude syndrome) - Gen IRF6.
- Genetic testing - Velocardiofacial syndrome ... (See DiGeorge syndrome ...).
- Genetic Testing - vibrational Urticaria (hives Vibratory) - Gen ADGRE2 I>.
- Genetic testing - Vici syndrome - EPG5 gene.
- Genetic Testing - visceral Familial amyloidosis (type VIII, Ostertag type) (visceral Familial amyloidosis (Ostertag-type amyloidosis, Familial renal amyloidosis, Systemic non-neuropathic amyloidosis) - Genes LYZ, APOA1, FGA I> and B2M I>.
- Genetic testing - Vitamin D-dependent rickets - CYP27B1, CYP2R1 and VDR genes.
- Genetic Testing - vitelliform macular dystrophy (vitelliform macular dystrophy) - Genes BEST1 I> and PRPH2.
- Genetic Testing - Vitiligo (Vitiligo) - Genes NLRP1 I> and PTPN22.
- Genetic Testing - vitreoretinopathy familial exudative (exudative vitreoretinopathy Familial) - Genes FZD4, LRP5 I> and NDP.
- Genetic Testing - Vitroretinocoroidopatía autosomal dominant (autosomal dominant vitreoretinochoroidopathy) - Gen BEST1.
- Genetic Testing - Vohwinkel syndrome ..., - (Vohwinkel syndrome) - Gen GJB2 I> (connexin 26).
- Genetic testing - Von Gierke's disease ... (See Glycogenoses type I).
- Genetic testing - Von Hippel-Lindau syndrome - VHL gene.
- Genetic Testing - Von Recklinghausen disease, ..., (See Neurofibromatosis type 1; peripheral Neurofibromatosis).
- Genetic Testing - Von Willebrand disease ..., (Von Willebrand disease) - Gen VWF.
- Genetic Testing - Waardenburg syndrome ..., (Waardenburg syndrome) - Genes PAX3 I> (types I and III), MITF I> (type II), SNAI2 < / I> (type II), SOX10 I> (type IV), EDN3 I> (type IV) and EDNRB I> (type IV).
- Genetic Testing - Wadia-Swami syndrome ..., (See Spinocerebellar ataxia type 2, olivopontocerebellar atrophy type II or type Holguin; Atrophy Type 2 spinocerebellar; Spinocerebellar ataxia type Cuban).
- Genetic Testing - Wagner syndrome ..., (Wagner syndrome) - Gen VCAN.
- Genetic Testing - WAGR syndrome ..., (WAGR syndrome) - Genes BDNF, PAX6 I> and WT1 I>.
- Genetic testing - Waldenström macroglobulinemia ..., (Waldenström macroglobulinemia) - Genes MYD88 I> and CXCR4.
- Genetic Testing - Walker-Warburg syndrome ..., -WWS- (COD Syndrome-MB-eye-brain Muscular Dystrophy--Dystrophy; HARD syndrome: Hydrocephalus, Agyria, Retinal Dysplasia) Walker-Warburg syndrome - Genes POMT1 , POMT2, FKRP, FKTN, ISPD, LARGE I>
- Genetic testing - Warfarin resistance, oumarin resistance - VKORC1, ABCB1, CALU, CYP2A6, CYP4F2, NQO1 and UGT1A1 genes.
- Genetic testing - Warfarin Sensitivity; Coumarin sensitivity - CYP2C9, VKORC1, CYP4F2, F9 and GGCX genes.
- Genetic Testing - Weaver syndrome ..., (Weaver syndrome) - Gen EZH2 I>.
- Genetic Testing - Weissenbacher-Zweymüller syndrome ..., (Weissenbacher-Zweymüller syndrome) - Gen COL11A2 I>.
- Genetic testing - Werdnig- Hoffmann, disease ... (Spinal muscular atrophy type 1) - (See Spinal Muscular Atrophy Type I, II, III, IV, ...).
- Genetic Testing - Werner syndrome ..., (Werner syndrome) - Genes WRN I> and LMNA I>.
- Genetic testing - West Syndrome West ... (See Infant Jerky X-linked syndrome).
- Genetic testing - White-Sutton syndrome; Autosomal Dominant Intellectual disability 37 - POGZ gene.
- Genetic testing - Wiedemann-Rautenstrauch syndrome - POLR3A gene.
- Genetic Testing - Williams syndrome ..., (Williams syndrome) - Genes Clip2, ELN, GTF2I, GTF2IRD1, LIMK1 I> and NCF1.
- Genetic testing - Wilms´ Tumor ...., (Nephroblastoma) (Wilms tumor; Nephroblastoma) - WT1, CTNNB1, AMER1, IGF2 or H19 genes.
- Genetic Testing - Wilson, disease ..., (Wilson Disease) - Genes ATP7B I> and PRNP.
- Genetic testing - Wiskott-Aldrich syndrome. WAS.
- Genetic testing - Wolff-Parkinson-White syndrome - PRKAG2 gene.
- Genetic Testing - Wolfram syndrome ..., (Wolfram Syndrome) - Genes CISD2 I> and WFS1 I>.
- Genetic Testing - Wolman Disease ..., (Wolman Disease) - Gen LIPA.
- Genetic Testing - Woodhouse-Sakati syndrome ..., (Woodhouse-Sakati syndrome) - Gen DCAF17 I>.
- Genetic testing - WPW syndrome ... (See Wolff-Parkinson-White syndrome ...).
- Genetic testing - X-linked acrogigantism; Chromosome Xq26 duplication - GPR101 gene.
- genetic testing - X-linked adrenoleukodystrophy (Adrenomyeloneuropathy; melanodermic leukodystrophy, Schilder disease-Addison disease; Bronze-Schilder disease; Creutzfeldt-Siemerling) (X-linked adrenoleukodystrophy) Gen ABCD1 >
- genetic testing - X-linked agammaglobulinemia (XLA: X-linked agammaglobulinemia; Bruton agammaglobulinemia, congenital agammaglobulinemia, X-linked agammaglobulinemia type 1 -AGMX1-; immunodeficiency type 1 -IMD1-) - Gen BTK I>.
- genetic testing - X-linked Creatine deficiency ..., (X-linked deficiency creatine) - Gen SLC6A8 I>.
- Genetic testing - X-linked hydrocephalus (See CRASH syndrome ...; MASA syndrome, agenesis of the corpus callosum).
- genetic testing - X linked hyper-IgM syndrome ..., (X Linked IgM syndrome hyper) - Gen CD40LG.
- genetic testing - X-linked Ichthyosis (Ichthyosis, X-Linked) - Gen STS.
- genetic testing - X-linked infantile nystagmus (nystagmus X- linked infantile) - Gen FRMD7.
- Genetic testing - X-linked infantile spinal muscular atrophy (XLSMA) – UBA1 gene.
- genetic testing - X-linked lymphoproliferative, disease ..., (Duncan Disease) (X-linked lymphoproliferative disease) - Genes SH2D1A I> and XIAP.
- genetic testing - X-linked sideroblastic anemia and ataxia (X-linked sideroblastic anemia and ataxia) - Gen ABCB7 I>.
- genetic testing - X-linked sideroblastic anemia (X-linked sideroblastic anemia) - Genes ALAS2 I> and HFE I>.
- Genetic testing - X-linked spondyloepiphyseal dysplasia tarda – TRAPPC2 gene.
- Genetic testing - X-linked thrombocytopenia - WAS gene.
- Genetic Testing - Xanthinuria hereditary (Hereditary Xanthinuria) - Genes XDH I> and Moços I>.
- Genetic Testing - XE fragile syndrome ..., (Fragile XE syndrome) - Gen AFF2 I>.
- Genetic Testing - Xeroderma pigmentosum (Xeroderma pigmentosum) - Genes ERCC2, POLH, XPC, ERCC3 I> and XPA.
- Genetic testing - Xia-Gibbs syndrome – AHDC1 gene.
- Genetic testing - 49, XXXXY syndrome - Chromosome X.
- Genetic testing - 48, XXYY syndrome - X Chromosome and Y chromosome.
- Genetic testing - 47, XYY syndrome; Jacob syndrome - Chomosome Y.
- Genetic testing - Yao syndrome; NOD2-associated autoinflammatory disease - NOD2 gene.
- Genetic testing - Yuan-Harel-Lupski syndrome - PMP22, RAI1 genes and chromosome 17.
- Genetic Testing - ZAP70-linked Severe Combined Immunodeficiency - ZAP70 gene.
- Genetic Testing - Zellweger, ... spectrum disorders (Zellweger spectrum disorder) - Genes PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19 I> and pEX26 I>.
- Genetic testing - 48, XXXY syndrome - Chromosome X.i