CentoICU platinum plus
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000530427.1
- Last updated: 2018-07-03
- Test version history
- 530427.1, last updated: 2018-07-03
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Combined oxidative phosphorylation deficiency 8
Offered by Centogene AG - the Rare Disease Company
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Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.CentoICU platinum plus
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
768 conditions tested. Click Indication tab for more information.
- Combined oxidative phosphorylation deficiency 8 (COXPD8)
- 3 Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D)
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- 3-Methylglutaconic aciduria type 1 (MGCA1)
- 3-Methylglutaconic aciduria type 2 (BTHS) (MGCA2)
- 3-Methylglutaconic aciduria type 3 (MGCA3)
- 3-methylcrotonyl CoA carboxylase 2 deficiency (MCC2D)
- 3-methylglutaconic aciduria type V (MGCA5)
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
- 46,XY sex reversal, type 2 (SRXY2)
- 5-Oxoprolinase deficiency (OPLAHD)
- Achondrogenesis, type IB (ACG1B)
- Acne inversa, familial, 3 (ACNINV3)
- Acrocephalosyndactyly type I (ACS1)
- Acromicric dysplasia (ACMICD)
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Acute myeloid leukemia (AML)
- Acyl-CoA dehydrogenase family, member 9, deficiency of (MC1DN20)
- Adenosine triphosphate, elevated, of erythrocytes
- Adenylosuccinate lyase deficiency (ADSLD)
- Adrenocorticotropic hormone deficiency (IAD)
- Adult polyglucosan body disease (APBN)
- Afibrinogenemia, congenital
- Agammaglobulinemia 2, autosomal recessive (AGM2)
- Agammaglobulinemia 3, autosomal recessive (AGM3)
- Agammaglobulinemia 4, autosomal recessive (AGM4)
- Agammaglobulinemia 5, autosomal dominant (AGM5)
- Agammaglobulinemia 6, autosomal recessive (AGM6)
- Alagille syndrome 1 (ALGS1)
- Alagille syndrome 2 (ALGS2)
- Albinism, ocular, with sensorineural deafness
- Alkaptonuria (AKU)
- Alpha thalassemia-X-linked intellectual disability syndrome (ATRX), lab preferred: ATR-X syndrome
- Alpha-1-antitrypsin deficiency (A1ATD)
- Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
- Alstrom syndrome (ALMS)
- Alveolar rhabdomyosarcoma (disease) (RMS2)
- Amelogenesis imperfecta, type IA (AI1A)
- Aminoglycoside-induced deafness
- Amish lethal microcephaly (MCPHA)
- Anauxetic dysplasia 1 (ANXD1), lab preferred: Anauxetic dysplasia
- Anemia without thromobocytopenia, X-linked (XLANP)
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency, lab preferred: FG syndrome 4
- Anemia, sideroblastic, 1 (SIDBA1)
- Angelman syndrome (AS)
- Anophthalmia/microphthalmia-esophageal atresia syndrome (MCOPS3)
- Antithrombin III deficiency (AT3D), lab preferred: Reduced antithrombin III activity
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2)
- Aplastic anemia
- Apolipoprotein C2 deficiency
- Arginase deficiency
- Arginine:glycine amidinotransferase deficiency (L-Arginine)
- Argininosuccinate lyase deficiency
- Arts syndrome (ARTS)
- Asparagine synthetase deficiency (ASNSD)
- Aspartylglucosaminuria (AGU)
- Atelosteogenesis type II (AO2), lab preferred: Atelosteogenesis type 2
- Atrial fibrillation, familial, 3 (ATFB3)
- Autism, susceptibility to, X-linked 3 (AUTSX3)
- Autoimmune thyroid disease 3 (AITD3)
- Autosomal dominant distal renal tubular acidosis (DRTA1)
- Autosomal dominant nonsyndromic deafness 2A (DFNA2A)
- Autosomal dominant nonsyndromic deafness 6 (DFNA6)
- Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)
- Autosomal recessive congenital ichthyosis 1 (LI1)
- Autosomal recessive congenital ichthyosis 10 (ARCI10)
- Autosomal recessive congenital ichthyosis 2 (ARCI2)
- Autosomal recessive congenital ichthyosis 3 (ARCI3)
- Autosomal recessive congenital ichthyosis 4A (LI2)
- Autosomal recessive congenital ichthyosis 4B (ARCI4B)
- Autosomal recessive congenital ichthyosis 5 (ARCI5)
- Autosomal recessive congenital ichthyosis 6 (ARCI6)
- Autosomal recessive congenital ichthyosis 8 (ARCI8)
- Autosomal recessive congenital ichthyosis 9 (ARCI9)
- Autosomal recessive polycystic kidney disease (ARPKD)
- BH4-deficient hyperphenylalaninemia A, lab preferred: 6-pyruvoyl-tetrahydropterin synthase deficiency
- BLOOD GROUP--LUTHERAN INHIBITOR (INLU)
- Bardet-Biedl syndrome 14 (BBS14)
- Bardet-Biedl syndrome 6 (BBS6)
- Bartter disease type 4a (BARTS4A), lab preferred: Bartter syndrome type 4 (BSND)
- Beare-Stevenson cutis gyrata syndrome (BSTVS), lab preferred: Cutis Gyrata syndrome of Beare and Stevenson
- Beckwith-Wiedemann syndrome (BWS)
- Benign familial neonatal seizures 1 (BFNS1)
- Benign familial neonatal seizures 2 (BFNS2)
- Bent bone dysplasia syndrome (BBDS)
- Bernard Soulier syndrome (BSS)
- Bernard-Soulier syndrome, type A2, autosomal dominant (BSSA2)
- Beta-hydroxyisobutyryl-CoA deacylase deficiency (HIBCHD)
- Beta-thalassemia, dominant inclusion body type (D-BTHAL)
- Bifunctional peroxisomal enzyme deficiency (DBIF)
- Bilirubin, serum level of, quantitative trait locus 1 (BILIQTL1)
- Biotinidase deficiency
- Body mass index quantitative trait locus 4 (BMIQ4)
- Branched-chain keto acid dehydrogenase kinase deficiency (BCKDKD)
- Branchiootic syndrome 1 (BOS1), lab preferred: Branchiootic syndrome
- Branchiootic syndrome 3 (BOS3)
- Branchiootorenal Syndrome 1 (BOR1), lab preferred: Melnick-Fraser syndrome
- Branchiootorenal syndrome 2 (BOR2)
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
- Brugada syndrome 3 (BRGDA3)
- Brugada syndrome 4 (BRGDA4)
- Budd-Chiari syndrome (BDCHS)
- CHARGE association (CHARGE)
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (MC4DN6)
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (MC4DN9)
- Cardiofaciocutaneous syndrome 1 (CFC1)
- Cardiofaciocutaneous syndrome 2 (CFC2)
- Cardiofaciocutaneous syndrome 3 (CFC3)
- Cardiofaciocutaneous syndrome 4 (CFC4)
- Cardiomyopathy, dilated, 1NN (CMD1NN)
- Cardiomyopathy, dilated, 1u (CMD1U)
- Carnitine acylcarnitine translocase deficiency (CACTD)
- Carnitine palmitoyltransferase 1A deficiency, lab preferred: Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency, infantile
- Carnitine palmitoyltransferase II deficiency, lethal neonatal, lab preferred: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
- Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced, lab preferred: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
- Cataract 41 (CTRCT41)
- Cataract-intellectual disability-hypogonadism syndrome
- Charcot-Marie-Tooth disease and deafness (CMT1E), lab preferred: Charcot-Marie-Tooth disease, type IE
- Charcot-Marie-Tooth disease, X-linked recessive, type 5 (CMTX5)
- Charcot-Marie-Tooth disease, demyelinating, type 1d (CMT1D)
- Charcot-Marie-Tooth disease, type IA (CMT1A)
- Childhood hypophosphatasia
- Cholestasis, benign recurrent intrahepatic 1 (BRIC1)
- Cholestasis, progressive familial intrahepatic 1 (PFIC1)
- Cholesterol monooxygenase (side-chain cleaving) deficiency (LCAH)
- Christianson syndrome (MRXSCH)
- Chronic obstructive pulmonary disease (COPD)
- Chudley-McCullough syndrome (CMCS)
- Citrullinemia type I
- Classic homocystinuria
- Cobalamin C disease (MAHCC), lab preferred: Methylmalonic acidemia with homocystinuria
- Coenzyme Q10 deficiency, primary 1 (COQ10D1)
- Coenzyme Q10 deficiency, primary, 2 (COQ10D2)
- Coenzyme Q10 deficiency, primary, 3 (COQ10D3)
- Coenzyme Q10 deficiency, primary, 5 (COQ10D5)
- Coffin-Lowry syndrome (CLS)
- Combined cellular and humoral immune defects with granulomas (CCHIDG)
- Combined d-2- and l-2-hydroxyglutaric aciduria (D2L2AD)
- Combined deficiency of sialidase AND beta galactosidase (GSL)
- Combined immunodeficiency due to STIM1 deficiency, lab preferred: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
- Combined immunodeficiency due to ZAP70 deficiency
- Combined immunodeficiency, X-linked (CIDX)
- Combined malonic and methylmalonic aciduria (CMAMMA)
- Combined oxidative phosphorylation deficiency 13 (COXPD13)
- Combined oxidative phosphorylation deficiency 6 (COXPD6)
- Combined oxidative phosphorylation deficiency 7 (COXPD7)
- Combined saposin deficiency
- Common variable immunodeficiency 1 (CVID1)
- Common variable immunodeficiency 10 (CVID10)
- Common variable immunodeficiency 2 (CVID2)
- Common variable immunodeficiency 3 (CVID3)
- Common variable immunodeficiency 4 (CVID4)
- Common variable immunodeficiency 6 (CVID6)
- Common variable immunodeficiency 7 (CVID7)
- Common variable immunodeficiency 8, with autoimmunity (CVID8)
- Complement component 4, partial deficiency of
- Complete trisomy 21 syndrome (DS)
- Congenital adrenal hypoplasia, X-linked (AHC)
- Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD)
- Congenital bile acid synthesis defect 2 (CBAS2)
- Congenital central hypoventilation (CCHS)
- Congenital defect of folate absorption
- Congenital disorder of glycosylation type 1M (CDG1M)
- Congenital disorder of glycosylation, type Ia (CDG1A)
- Congenital dyserythropoietic anemia type type 1B
- Congenital dyserythropoietic anemia, type I (CDAN1A)
- Congenital dyserythropoietic anemia, type IV (CDAN4)
- Congenital erythropoietic porphyria (CEP)
- Congenital hyperammonemia, type I
- Congenital hypomyelinating neuropathy 1, autosomal recessive (CHN1)
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (MC4DN5), lab preferred: Leigh syndrome, French Canadian type
- Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 (MDDGA2)
- Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 (MDDGB1)
- Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 (MDDGB2)
- Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 (MDDGB4)
- Corneal dystrophy, Fuchs endothelial, 3 (FECD3)
- Cornelia de Lange syndrome 1 (CDLS1)
- Corticosterone methyloxidase type 1 deficiency
- Corticosterone methyloxidase type 2 deficiency
- Costello syndrome (CSTLO)
- Cowchock syndrome, lab preferred: Charcot-Marie-Tooth disease, X-linked recessive, type 4
- Craniofacial-deafness-hand syndrome (CDHS)
- Crigler-Najjar syndrome
- Crigler-Najjar syndrome, type II
- Crouzon syndrome
- Curry-Hall syndrome (WAD)
- Cushing's syndrome (AIMAH1)
- Cutis laxa, X-linked (OHS)
- Cyclical neutropenia
- Cystic fibrosis (CF)
- Cystinuria (CSNU)
- D-2-hydroxyglutaric aciduria 1 (D2HGA1)
- D-Glyceric aciduria
- Deafness, X-linked 1 (DFNX1), lab preferred: Deafness, high-frequency sensorineural, X-linked
- Deafness, X-linked 5 (DFNX5)
- Deafness, autosomal dominant 10 (DFNA10)
- Deafness, autosomal dominant 23 (DFNA23)
- Deafness, autosomal dominant 3a (DFNA3A)
- Deafness, autosomal recessive 1A (DFNB1A)
- Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (DFNB4)
- Deafness, autosomal recessive 70 (DFNB70)
- Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Deficiency of 3-hydroxyacyl-CoA dehydrogenase
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (GALAC1)
- Deficiency of acetyl-CoA acetyltransferase
- Deficiency of alpha-mannosidase (MANSA)
- Deficiency of aromatic-L-amino-acid decarboxylase
- Deficiency of beta-ureidopropionase (UPB1D)
- Deficiency of butyryl-CoA dehydrogenase (ACADSD)
- Deficiency of galactokinase (GALAC2)
- Deficiency of glycerol kinase (GKD)
- Deficiency of guanidinoacetate methyltransferase (CCDS2)
- Deficiency of hydroxymethylglutaryl-CoA lyase (HMGCLD)
- Deficiency of iodide peroxidase (TDH2A)
- Deficiency of isobutyryl-CoA dehydrogenase (IBDD)
- Deficiency of malonyl-CoA decarboxylase
- Deficiency of phosphoserine phosphatase (PSPHD)
- Deficiency of steroid 11-beta-monooxygenase (CYP11B1)
- Deficiency of steroid 17-alpha-monooxygenase
- Dejerine-Sottas disease
- Diabetes mellitus, insulin-dependent, 10 (T1D10)
- Diabetes mellitus, insulin-dependent, 2 (T1D2)
- Diabetes mellitus, insulin-dependent, 20 (T1D20)
- Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH)
- Diabetes mellitus, permanent neonatal, with cerebellar agenesis (PACA)
- Diamond-Blackfan anemia 1 (DBA1)
- Diastrophic dysplasia (DTD)
- Dihydropteridine reductase deficiency (HPABH4C)
- Dilated cardiomyopathy 1J (CMD1J)
- Dilated cardiomyopathy 1X (CMD1X)
- Distal spinal muscular atrophy, X-linked 3 (SMAX3)
- Dominant dystrophic epidermolysis bullosa with absence of skin
- Dopa-responsive dystonia due to sepiapterin reductase deficiency, lab preferred: Sepiapterin reductase deficiency
- Dowling-Degos disease 1
- Drash syndrome (DDS)
- Duane-radial ray syndrome (DRRS)
- Dubin-Johnson syndrome (DJS)
- Dysfibrinogenemia, congenital
- Dystonia 5 (DRD), lab preferred: Dystonia 5, Dopa-responsive type
- Dystonia 9 (DYT9)
- EAST syndrome (SESAMES)
- Early infantile epileptic encephalopathy 11 (DEE11)
- Early infantile epileptic encephalopathy 2 (DEE2)
- Early infantile epileptic encephalopathy 4 (DEE4)
- Early infantile epileptic encephalopathy 5 (DEE5)
- Early infantile epileptic encephalopathy 7 (DEE7)
- Ectopia lentis, isolated, autosomal dominant (ECTOL1)
- Ehlers-Danlos syndrome, cardiac valvular type (EDSCV), lab preferred: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
- Ehlers-Danlos syndrome, classic type (cEDS) (EDSCL1)
- Ehlers-Danlos syndrome, hydroxylysine-deficient (EDSKSCL1) (EDS6)
- Ehlers-Danlos syndrome, procollagen proteinase deficient (EDSARTH1)
- Elliptocytosis 2 (EL2)
- Ellis-van Creveld syndrome (EVC), lab preferred: Chondroectodermal dysplasia
- Encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)
- Epidermolysis bullosa junctionalis with pyloric atresia, lab preferred: Epidermolysis bullosa with pyloric atresia
- Epidermolysis bullosa pruriginosa
- Epidermolysis bullosa simplex Dowling-Meara type, lab preferred: Epidermolysis bullosa herpetiformis, Dowling-Meara
- Epidermolysis bullosa simplex with migratory circinate erythema
- Epidermolysis bullosa simplex with mottled pigmentation (EBSMP)
- Epidermolysis bullosa simplex with muscular dystrophy (EBSMD), lab preferred: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
- Epidermolysis bullosa simplex with nail dystrophy (EBSND)
- Epidermolysis bullosa simplex with pyloric atresia (EBSPA)
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Ogna type (EBSOG)
- Epidermolysis bullosa simplex, autosomal recessive (EBSB1)
- Epilepsy, idiopathic generalized 8 (EIG8)
- Epilepsy, idiopathic generalized, susceptibility to, 12 (EIG12)
- Epithelial recurrent erosion dystrophy (ERED)
- Erythrocyte lactate transporter defect
- Ethylmalonic encephalopathy (EE)
- Exercise-induced hyperinsulinism (HHF7), lab preferred: Exercise-induced hyperinsulinemic hypoglycemia
- FG syndrome 4 (FGS4)
- Fabry disease
- Factor V deficiency
- Factor VII deficiency
- Factor X deficiency
- Factor XIII subunit A deficiency
- Familial hemiplegic migraine type 3 (FHM3)
- Familial hypertrophic cardiomyopathy 6 (CMH6)
- Familial visceral amyloidosis, Ostertag type
- Fanconi anemia, complementation group A (FANCA)
- Fanconi anemia, complementation group B (FANCB)
- Fanconi anemia, complementation group C (FANCC)
- Fanconi anemia, complementation group D1 (FANCD1)
- Fanconi anemia, complementation group D2 (FANCD2)
- Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4)
- Febrile seizures, familial, 4 (FEB4)
- Feingold syndrome 1 (FGLDS1)
- Fetal hemoglobin quantitative trait locus 1 (HBFQTL1)
- Fetal hemoglobin quantitative trait locus 6 (HBFQTL6)
- Fibrochondrogenesis 1 (FBCG1), lab preferred: Fibrochondrogenesis
- Focal cortical dysplasia type II (FCORD2), lab preferred: Focal cortical dysplasia of Taylor (FCDT)
- Focal segmental glomerulosclerosis 7 (FSGS7)
- Fraser syndrome 1 (FRASRS1)
- Frasier syndrome
- Frontotemporal dementia (FTD)
- Fructose-biphosphatase deficiency (FBP1D)
- Fucosidosis
- Fukuyama congenital muscular dystrophy (MDDGA4)
- Fumarase deficiency (FMRD)
- GATA-1-related thrombocytopenia with dyserythropoiesis (XLTDA)
- GLUT1 deficiency syndrome 1 (GLUT1DS1), lab preferred: Glucose transporter type 1 deficiency syndrome
- GLUT1 deficiency syndrome 2 (GLUT1DS2)
- GM1 gangliosidosis type 2, lab preferred: Juvenile GM>1< gangliosidosis
- GM1 gangliosidosis type 3, lab preferred: Gangliosidosis GM1 type 3
- GNE myopathy (NM), lab preferred: Nonaka myopathy
- GRACILE syndrome (FLNMS)
- GTP cyclohydrolase I deficiency (HPABH4B)
- Galactosylceramide beta-galactosidase deficiency
- Gamma-aminobutyric acid transaminase deficiency
- Gaucher disease, atypical, due to saposin C deficiency
- Geleophysic dysplasia 2 (GPHYSD2)
- Generalized dominant dystrophic epidermolysis bullosa (DDEB)
- Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2)
- Gilbert's syndrome
- Gingival fibromatosis 1 (GINGF1)
- Glanzmann thrombasthenia (GT)
- Glucose-6-phosphate transport defect (GSD1B)
- Glutaryl-CoA oxidase deficiency (GA3)
- Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to (GSSDE)
- Gluthathione synthetase deficiency (GSSD)
- Glycine N-methyltransferase deficiency
- Glycogen storage disease due to hepatic glycogen synthase deficiency (GSD0A)
- Glycogen storage disease of heart, lethal congenital
- Glycogen storage disease type III (GSD3)
- Glycogen storage disease, type II (GSD2)
- Glycogen storage disease, type IV (GSD4)
- Growth delay due to insulin-like growth factor I resistance, lab preferred: Insulin-like growth factor 1 resistance to
- Growth delay due to insulin-like growth factor type 1 deficiency, lab preferred: Insulin-like growth factor I deficiency
- Guillain-Barre syndrome, familial (GBS)
- HNSHA due to aldolase A deficiency (GSD12)
- HSD10 disease (HSD10MD)
- Hajdu-Cheney syndrome (HJCYS)
- Hawkinsinuria, lab preferred: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
- Hb SS disease (SCD)
- Heinz body anemia
- Hepatic adenomas, familial
- Hepatic methionine adenosyltransferase deficiency
- Hereditary angioedema type 1 (HAE1)
- Hereditary cryohydrocytosis with normal stomatin
- Hereditary factor IX deficiency disease (HEMB)
- Hereditary factor VIII deficiency disease (HEMA)
- Hereditary factor XI deficiency disease
- Hereditary fructosuria (HFI)
- Hereditary liability to pressure palsies (HNPP)
- Hereditary pancreatitis (PCTT)
- Hereditary pyropoikilocytosis (HPP)
- Hereditary sensory and autonomic neuropathy type IIA (HSAN2A)
- Hirschsprung disease 1 (HSCR1)
- Hirschsprung disease 4 (HSCR4)
- Histiocytic medullary reticulosis
- Holocarboxylase synthetase deficiency
- Holt-Oram syndrome (HOS)
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)
- Hyper-IgM syndrome type 1
- Hyper-IgM syndrome type 2, lab preferred: Immunodeficiency with hyper IgM type 2
- Hyper-IgM syndrome type 3, lab preferred: Immunodeficiency with hyper IgM type 3
- Hyper-IgM syndrome type 5 (HIGM5)
- Hyperaldosteronism, familial, type I (HALD1)
- Hyperammonemia, type III (NAGSD)
- Hypercholanemia, familial (FHCA)
- Hyperimmunoglobulin D with periodic fever (HIDS)
- Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (HIES2)
- Hyperinsulinemic hypoglycemia familial 5 (HHF5)
- Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)
- Hyperinsulinemic hypoglycemia, familial, 4 (HHF4)
- Hyperinsulinism due to glucokinase deficiency (HHF3)
- Hyperlysinemia
- Hypermethioninemia due to adenosine kinase deficiency
- Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
- Hyperphenylalaninemia, BH4-deficient, D (HPABH4D)
- Hyperproinsulinemia
- Hyperthyroidism, familial gestational
- Hyperthyroidism, nonautoimmune
- Hypocalcemia, autosomal dominant 1 (HYPOC1)
- Hypocalcemia, autosomal dominant 2 (HYPOC2), lab preferred: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
- Hypocalciuric hypercalcemia, familial, type 1 (HHC1)
- Hypocalciuric hypercalcemia, familial, type II (HHC2), lab preferred: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II
- Hypoglycemia, neonatal, simulating foetopathia diabetica (HIHGHH)
- Hypogonadotropic hypogonadism 5 with or without anosmia
- Hypoparathyroidism-deafness-renal disease syndrome (HDR)
- Hypothyroidism, congenital, nongoitrous, 1 (CHNG1)
- Hypothyroidism, congenital, nongoitrous, 2 (CHNG2)
- Hypothyroidism, congenital, nongoitrous, 6 (CHNG6)
- Hystrix-like ichthyosis with deafness
- IL21R immunodeficiency (IMD56)
- IVIC syndrome (OORS)
- Ige responsiveness, atopic (IGER)
- Immunodeficiency 12 (IMD12)
- Immunodeficiency 14 (IMD14)
- Immunodeficiency 15 (IMD15B)
- Immunodeficiency 17 (IMD17)
- Immunodeficiency 18 (IMD18)
- Immunodeficiency 19 (IMD19)
- Immunodeficiency 22 (IMD22)
- Immunodeficiency 24 (IMD24)
- Immunodeficiency 26 with or without neurologic abnormalities (IMD26)
- Immunodeficiency 30 (IMD30)
- Immunodeficiency 32a (IMD32A)
- Immunodeficiency 32b (IMD32B)
- Immunodeficiency 8 (IMD8)
- Immunodeficiency due to defect in cd3-zeta (IMD25)
- Immunodeficiency due to defect in mapbp-interacting protein
- Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN)
- Immunoglobulin A deficiency 2 (IGAD2)
- Infantile GM1 gangliosidosis
- Infantile cortical hyperostosis (CAFYD)
- Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Interleukin 2 receptor, alpha, deficiency of (IMD41)
- Intervertebral disc disorder (IDD)
- Iodotyrosyl coupling defect (TDH3)
- Islet cell hyperplasia (HHF2)
- Isolated sulfite oxidase deficiency (ISOD), lab preferred: Sulfite oxidase deficiency
- Isovaleryl-CoA dehydrogenase deficiency (IVA)
- Jackson-Weiss syndrome (JWS)
- Jervell and Lange-Nielsen syndrome 1 (JLNS1)
- Jervell and Lange-Nielsen syndrome 2 (JLNS2)
- Joubert syndrome 5 (JBTS5)
- Junctional epidermolysis bullosa gravis of Herlitz
- Junctional epidermolysis bullosa, non-Herlitz type (GABEB), lab preferred: Adult junctional epidermolysis bullosa
- Juvenile myelomonocytic leukemia (JMML)
- Juvenile nephropathic cystinosis
- Kabuki syndrome 1 (KABUK1), lab preferred: Kabuki make-up syndrome
- Kabuki syndrome 2 (KABUK2)
- Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD)
- Klein-Waardenberg's syndrome (WS3)
- Knuckle pads, deafness AND leukonychia syndrome (BAPS)
- Krabbe disease, atypical, due to saposin A deficiency, lab preferred: Krabbe disease atypical due to Saposin A deficiency
- LEOPARD syndrome 1 (LPRD1)
- LEOPARD syndrome 2 (LPRD2)
- LEOPARD syndrome 3 (LPRD3)
- Lafora disease
- Laryngo-onycho-cutaneous syndrome, lab preferred: Laryngoonychocutaneous syndrome
- Leber congenital amaurosis 10 (LCA10)
- Legius syndrome (LGSS)
- Leigh syndrome (LS)
- Lenz microphthalmia syndrome (MCOPS1)
- Leprechaunism syndrome
- Lesch-Nyhan syndrome (LNS)
- Leucine-induced hypoglycemia (LIH)
- Leukoencephalopathy, progressive, with ovarian failure (LKENP)
- Levy-Hollister syndrome (LADD)
- Lig4 syndrome
- Limb-girdle muscular dystrophy, type 2Q (LGMDR17)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 (MDDGC1)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 (MDDGC2)
- Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 (MDDGC4)
- Localized epidermolysis bullosa simplex, lab preferred: Epidermolysis bullosa simplex, Cockayne-Touraine type
- Long QT syndrome 1 (LQT1)
- Long QT syndrome 11 (LQT11)
- Long QT syndrome 14 (LQT14)
- Long QT syndrome 2 (LQT2)
- Long QT syndrome 5 (LQT5)
- Lucey-Driscoll syndrome (HBLRTFN)
- Lymphangiomyomatosis (LAM)
- Lysinuric protein intolerance (LPI)
- Lysosomal acid lipase deficiency
- MASS syndrome (OCTD)
- Maple syrup urine disease (MSUD)
- Maple syrup urine disease, mild variant (MSUDMV)
- Maple syrup urine disease, type 3 (MSUD3)
- Marfan syndrome (MFS)
- Marshall syndrome (MRSHS)
- Maternal riboflavin deficiency, lab preferred: Riboflavin deficiency
- Maturity-onset diabetes of the young type 4 (MODY4), lab preferred: Maturity-onset diabetes of the young, type 4
- Maturity-onset diabetes of the young, type 1 (MODY1)
- Maturity-onset diabetes of the young, type 10 (MODY10)
- Maturity-onset diabetes of the young, type 13 (MODY13)
- Maturity-onset diabetes of the young, type 2 (MODY2)
- Maturity-onset diabetes of the young, type 3 (MODY3)
- McKusick-Kaufman syndrome (MKKS)
- Meacham syndrome
- Meckel syndrome, type 4 (MKS4)
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD) (MCAD)
- Menkes kinky-hair syndrome (MNK) (MK)
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
- Mental retardation, X-linked 19 (MRX19)
- Mental retardation, X-linked, syndromic 10 (MRXS10)
- Mental retardation, X-linked, syndromic 13 (MRXS13)
- Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations (MRD20)
- Merosin deficient congenital muscular dystrophy (MDC1A)
- Metachondromatosis (METCDS)
- Metachromatic leukodystrophy (MLD)
- Metaphyseal chondrodysplasia, McKusick type (CHH)
- Metaphyseal dysplasia without hypotrichosis (MDWH) (CHHV)
- Methylcobalamin deficiency type cblG (HMAG)
- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)
- Methylmalonic acidemia with homocystinuria cblD (MAHCD)
- Methylmalonic acidemia with homocystinuria, type cblJ (MAHCJ), lab preferred: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
- Methylmalonic aciduria and homocystinuria type cblF (MAHCF)
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Methylmalonic aciduria due to transcobalamin receptor defect
- Mevalonic aciduria (MEVA)
- Microcephalic osteodysplastic primordial dwarfism type II (MOPD2)
- Microcephaly with mental retardation and digital anomalies (JWDS)
- Microcephaly, epilepsy, and diabetes syndrome (MEDS)
- Mitochondrial DNA depletion syndrome 4B, MNGIE type (MTDPS4B)
- Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MTDPS5)
- Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) (MTDPS9)
- Mitochondrial complex I deficiency
- Mitochondrial complex II deficiency (MC2DN1)
- Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1), lab preferred: Mitochondrial complex III deficiency
- Mitochondrial complex III deficiency, nuclear type 5 (MC3DN5)
- Mitochondrial complex III deficiency, nuclear type 7 (MC3DN7)
- Mitochondrial complex IV deficiency (MC4DN1)
- Mitochondrial pyruvate carrier deficiency (MPYCD)
- Mitochondrial trifunctional protein deficiency (MTPD), lab preferred: Trifunctional protein deficiency with myopathy and neuropathy
- Molybdenum cofactor deficiency, complementation group A
- Molybdenum cofactor deficiency, complementation group B (MOCODB)
- Molybdenum cofactor deficiency, complementation group C (MOCODC)
- Monocarboxylate transporter 1 deficiency (MCT1D)
- Mowat-Wilson syndrome (MOWS)
- Mucolipidosis type II
- Mucopolysaccharidosis type 6 (MPS6)
- Mucopolysaccharidosis type 7 (MPS7), lab preferred: Mucopolysaccharidosis type VII
- Mucopolysaccharidosis, MPS-IV-A (MPS4A)
- Mucopolysaccharidosis, MPS-IV-B (MPS4B)
- Multiple acyl-CoA dehydrogenase deficiency (MADD), lab preferred: Glutaric aciduria, type 2
- Multiple endocrine neoplasia, type 2a (MEN2A)
- Multiple endocrine neoplasia, type 2b (MEN2B)
- Multiple epiphyseal dysplasia 1 (EDM1)
- Multiple epiphyseal dysplasia type 4 (EDM4), lab preferred: Multiple epiphyseal dysplasia 4
- Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)
- Multiple sulfatase deficiency (MSD)
- Multiple system atrophy (MSA)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MDDGA1)
- Mutilating keratoderma (VOWNKL) (KHM)
- Myocardial infarction 1 (MCI1)
- Myopathy, tubular aggregate, 1 (TAM1), lab preferred: Myopathy with tubular aggregates
- N-terminal acetyltransferase deficiency (OGDNS)
- Nail disorder, nonsyndromic congenital, 8 (NDNC8)
- Natural killer cell and glucocorticoid deficiency with DNA repair defect (IMD54)
- Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
- Neonatal severe hyperparathyroidism (NSHPT)
- Nephropathic cystinosis (CTNS), lab preferred: Cystinosis
- Nephrotic syndrome, type 4 (NPHS4), lab preferred: Diffuse mesangial sclerosis
- Neu-Laxova syndrome 1 (NLS1)
- Neu-laxova syndrome 2 (NLS2)
- Neural tube defects, folate-sensitive (NTDFS)
- Neuroblastoma 2 (NBLST2)
- Neuronal ceroid lipofuscinosis 10 (CLN10)
- Neutropenia, severe congenital 1, autosomal dominant (SCN1)
- Neutrophil immunodeficiency syndrome (IMD73A)
- Niemann-Pick disease, type A
- Niemann-Pick disease, type B
- Niemann-Pick disease, type C2 (NPC2)
- Non-acquired combined pituitary hormone deficiency with spine abnormalities (CPHD3), lab preferred: Pituitary hormone deficiency, combined 3
- Non-ketotic hyperglycinemia (GCE)
- Nonarteritic anterior ischemic optic neuropathy, susceptibility to
- Noonan syndrome 1 (NS1)
- Noonan syndrome 3 (NS3)
- Noonan syndrome 4 (NS4)
- Noonan syndrome 5 (NS5)
- Noonan syndrome 6 (NS6)
- Noonan syndrome 7 (NS7)
- Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1), lab preferred: Noonan-like syndrome with loose anagen hair
- Obesity (EO Obesity)
- Ocular cystinosis, lab preferred: Cystinosis, ocular nonnephropathic
- Optic atrophy 3 (OPA3)
- Ornithine aminotransferase deficiency (GACR)
- Ornithine carbamoyltransferase deficiency (OTCD)
- Orotic aciduria
- Osteogenesis imperfecta type 7 (OI7)
- Osteogenesis imperfecta type 8 (OI8)
- Osteogenesis imperfecta type I (OI1)
- Osteogenesis imperfecta type III (OI3)
- Osteogenesis imperfecta with normal sclerae, dominant form (OI4)
- Osteogenesis imperfecta, recessive perinatal lethal (OI2)
- Otofaciocervical syndrome 1 (OTFCS), lab preferred: Otofaciocervical syndrome
- Ovalocytosis, southeast Asian (SAO)
- Oxoglutaricaciduria, lab preferred: Alpha-ketoglutarate dehydrogenase deficiency
- Palmoplantar keratoderma-deafness syndrome, lab preferred: Keratoderma palmoplantar deafness
- Pancreatic agenesis 1 (PAGEN1), lab preferred: Pancreatic agenesis, congenital
- Pancreatic agenesis 2 (PAGEN2)
- Panic disorder 1 (PAND1)
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (HRH)
- Permanent neonatal diabetes mellitus (PNDM), lab preferred: DIABETES MELLITUS, PERMANENT NEONATAL 1 (PNDM1)
- Peroxisomal acyl-CoA oxidase deficiency
- Perrault syndrome 1 (PRLTS1), lab preferred: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
- Pfeiffer syndrome (ACS5)
- Phenylketonuria (PKU)
- Pheochromocytoma
- Phosphate transport defect (GSD1C)
- Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC)
- Phosphoglycerate dehydrogenase deficiency (PHGDHD)
- Phosphoribosylpyrophosphate synthetase superactivity
- Phosphoserine aminotransferase deficiency (PSATD)
- Pick's disease
- Pili torti-deafness syndrome (BJS)
- Pineal hyperplasia AND diabetes mellitus syndrome
- Pitt-Hopkins syndrome (PTHS)
- Pituitary hormone deficiency, combined 2 (CPHD2)
- Pituitary hormone deficiency, combined, 1 (CPHD1)
- Platelet-type bleeding disorder 15 (BDPLT15)
- Platelet-type bleeding disorder 16 (BDPLT16)
- Platelet-type bleeding disorder 17 (BDPLT17)
- Platelet-type bleeding disorder 8 (BDPLT8)
- Polycystic kidney disease 2 (PKD2)
- Porokeratosis 3, disseminated superficial actinic type (DSAP1)
- Pretibial epidermolysis bullosa
- Primary aldosteronism, seizures, and neurologic abnormalities (PASNA)
- Primary autosomal recessive microcephaly 1 (MCPH1)
- Primary autosomal recessive microcephaly 2 (MCPH2)
- Primary autosomal recessive microcephaly 3 (MCPH3)
- Primary autosomal recessive microcephaly 5 (MCPH5)
- Primary autosomal recessive microcephaly 6 (MCPH6)
- Primary autosomal recessive microcephaly 7 (MCPH7)
- Primary autosomal recessive microcephaly 9 (MCPH9)
- Primary hyperoxaluria, type I (HP1)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 (PEOA6)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (PEOB1), lab preferred: Cerebellar ataxia infantile with progressive external ophthalmoplegia
- Progressive familial intrahepatic cholestasis 4 (PFIC4)
- Progressive osseous heteroplasia (POH)
- Progressive sclerosing poliodystrophy (MTDPS4A)
- Prolidase deficiency
- Proline dehydrogenase deficiency (HYRPRO1)
- Proopiomelanocortin deficiency (OBAIRH)
- Propionic acidemia, lab preferred: Propionyl-CoA carboxylase deficiency
- Prothrombin deficiency, congenital
- Protoporphyria, erythropoietic, X-linked (XLEPP)
- Pseudo von Willebrand disease (VWDP)
- Pseudo-Hurler polydystrophy
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (PSACH)
- Pseudohypoaldosteronism type 2C (PHA2C)
- Pseudohypoparathyroidism (PHP1A), lab preferred: Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1B (PHP1B)
- Pseudohypoparathyroidism type 1C (PHP1C)
- Pseudopseudohypoparathyroidism (PPHP)
- Pulmonary hypertension, neonatal, susceptibility to (PHN)
- Purine-nucleoside phosphorylase deficiency
- Pyridoxal phosphate-responsive seizures (PNPOD)
- Pyridoxine-dependent epilepsy (EPD)
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)
- Pyruvate dehydrogenase E1-beta deficiency (PDHBD)
- Pyruvate dehydrogenase E2 deficiency (PDHDD)
- Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD)
- Pyruvate dehydrogenase lipoic acid synthetase deficiency (HGCLAS)
- Pyruvate dehydrogenase phosphatase deficiency (PDHPD)
- Pyruvate kinase deficiency of red cells
- RAS-associated autoimmune leukoproliferative disorder (RALD)
- Radial aplasia-thrombocytopenia syndrome (TAR)
- Recessive dystrophic epidermolysis bullosa (RDEB)
- Renal carnitine transport defect (CDSP)
- Renal coloboma syndrome (PAPRS)
- Renal cysts and diabetes syndrome (RCAD), lab preferred: Familial hypoplastic, glomerulocystic kidney
- Renal hypodysplasia/aplasia 1 (RHDA1), lab preferred: Renal adysplasia
- Renal tubular acidosis with progressive nerve deafness (DRTA2)
- Renal tubular acidosis, distal, with hemolytic anemia (DRTA4)
- Retinoblastoma (RB1)
- Rett syndrome (RTT)
- Rett syndrome, congenital variant
- Rotor syndrome (HBLRR)
- Roussy-Lévy syndrome
- Saccharopinuria
- Saethre-Chotzen syndrome (SCS)
- Salt and pepper developmental regression syndrome (SPDRS)
- Sandhoff disease
- Scaphocephaly, maxillary retrusion, and mental retardation
- Seckel syndrome 1 (SCKL1)
- Seckel syndrome 2 (SCKL2)
- Seckel syndrome 4 (SCKL4)
- Seckel syndrome 5 (SCKL5)
- Seckel syndrome 8 (SCKL8)
- Secondary hypothyroidism (CHNG4)
- Seizures, benign familial infantile, 3 (BFIS3)
- Senior-Loken syndrome 6 (SLSN6)
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (SANDO), lab preferred: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Septo-optic dysplasia sequence
- Severe combined immunodeficiency disease
- Severe combined immunodeficiency due to ADA deficiency
- Severe combined immunodeficiency due to DCLRE1C deficiency
- Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, lab preferred: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
- Severe congenital neutropenia 6, autosomal recessive (SCN6)
- Severe myoclonic epilepsy in infancy (DRVT)
- Severe neonatal-onset encephalopathy with microcephaly, lab preferred: Encephalopathy, neonatal severe, due to mecp2 mutation
- Short QT syndrome 1 (SQT1)
- Short QT syndrome 2 (SQT2)
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome (CPHD4)
- Shwachman-Diamond syndrome 1 (SDS1), lab preferred: Shwachman syndrome (SDS)
- Sialidosis type 2
- Sialuria
- Simpson-Golabi-Behmel syndrome type 1 (SGBS1), lab preferred: Simpson-Golabi-Behmel syndrome
- Sinoatrial node dysfunction and deafness (SANDD)
- Sjögren-Larsson syndrome (SLS)
- Smith-Lemli-Opitz syndrome (SLOS)
- Sotos syndrome 1 (SOTOS1)
- Spastic paraplegia 55, autosomal recessive (SPG55)
- Spherocytosis type 1 (SPH1)
- Spherocytosis type 2 (SPH2)
- Spherocytosis type 3 (SPH3)
- Spherocytosis type 5 (SPH5)
- Sphingolipid activator protein 1 deficiency
- Spongy degeneration of central nervous system
- Stickler syndrome type 2 (STL2), lab preferred: Stickler syndrome, type 2
- Stiff skin syndrome (SSKS)
- Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN)
- Stormorken syndrome (STRMK)
- Striatal necrosis, bilateral, and progressive polyneuropathy (THMD4)
- Succinate-semialdehyde dehydrogenase deficiency (SSADHD)
- Succinyl-CoA acetoacetate transferase deficiency (SCOTD)
- Sudden infant death with dysgenesis of the testes syndrome (SIDDT)
- Surfactant metabolism dysfunction, pulmonary, 1 (SMDP1)
- Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2)
- Surfactant metabolism dysfunction, pulmonary, 3 (SMDP3)
- Surfactant metabolism dysfunction, pulmonary, 4 (SMDP4)
- Susceptibility to hepatitis C virus
- Syndromic X-linked intellectual disability Lubs type (MRXSL), lab preferred: MECP2 duplication syndrome
- Systemic lupus erythematosus 9 (SLEB9)
- Tay-Sachs disease (TSD)
- Tetralogy of Fallot (TOF)
- Thrombocytopenia 2 (THC2)
- Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis (XLTT)
- Thrombophilia due to factor V Leiden (THPH2)
- Thrombophilia due to protein S deficiency, autosomal dominant
- Thrombophilia due to protein S deficiency, autosomal recessive (THPH6)
- Thrombophilia due to thrombin defect (THPH1), lab preferred: Thrombophilia
- Thrombophilia, X-linked, due to factor IX defect (THPH8)
- Thyroglobulin synthesis defect (TDH5)
- Thyroid dyshormonogenesis 1 (TDH1)
- Thyroid dyshormonogenesis 6 (TDH6)
- Thyrotropin-releasing hormone resistance, generalized
- Tietz syndrome (TADS)
- Timothy syndrome (TS)
- Townes-Brocks syndrome 1 (TBS1), lab preferred: Townes syndrome (TBS)
- Transcolabamin II deficiency, lab preferred: Transcobalamin II deficiency
- Transient neonatal diabetes mellitus 3 (TNDM3)
- Tropical calcific pancreatitis (TCP)
- Tuberous sclerosis 1 (TSC1)
- Tuberous sclerosis 2 (TSC2)
- Type 2 diabetes mellitus (T2D) (NIDDM)
- Tyrosinemia type 3 (TYRSN3), lab preferred: 4-Hydroxyphenylpyruvate dioxygenase deficiency
- Tyrosinemia type I (TYRSN1)
- Tyrosinemia type II (TYRSN2)
- UDPglucose-4-epimerase deficiency (GALAC3)
- Unverricht-Lundborg syndrome
- Upshaw-Schulman syndrome (TTP)
- Usher syndrome, type 2C (USH2C)
- Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4)
- Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
- Vitamin B12-responsive methylmalonic acidemia type cblA, lab preferred: Methylmalonic aciduria cblA type
- Vitamin B12-responsive methylmalonic acidemia type cblB
- Waardenburg syndrome type 1 (WS1)
- Waardenburg syndrome type 2A (WS2A)
- Waardenburg syndrome type 4B (WS4B)
- Warburg micro syndrome 1 (WARBM1)
- Warburg micro syndrome 2 (WARBM2)
- Warburg micro syndrome 3 (WARBM3)
- Wilson disease (WND)
- Wiskott-Aldrich syndrome (WAS)
- Wolcott-Rallison dysplasia
- Wolff-Parkinson-White pattern
- Wolfram syndrome 1 (WFS1)
- Wolfram-like syndrome, autosomal dominant (WFSL)
- X-linked agammaglobulinemia (XLA)
- X-linked agammaglobulinemia with growth hormone deficiency (IGHD3)
- X-linked ichthyosis with steryl-sulfatase deficiency (XLI)
- X-linked intellectual disability-hypotonic face syndrome, lab preferred: Mental retardation-hypotonic facies syndrome X-linked, 1
- X-linked severe combined immunodeficiency (SCIDX1)
- X-linked severe congenital neutropenia (SCNX), lab preferred: Severe congenital neutropenia X-linked
- X-linked thrombocytopenia with normal platelets (THC1), lab preferred: Thrombocytopenia, X-linked
- beta Thalassemia (BTHAL)
- mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D)
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.centogene.com/ordering/how-to-order-a-test.html
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
514 genes and variants. Click Methodology tab for more information.
Genes
- Gene: AARS2 (6p21.1)
- Gene: AASS (7q31.32)
- Gene: ABAT (16p13.2)
- Gene: ABCA12 (2q35)
- Gene: ABCA3 (16p13.3)
- Gene: ABCC2 (10q24.2)
- Gene: ABCC8 (11p15.1)
- Gene: ABCD4 (14q24.3)
- Gene: ACAD8 (11q25)
- Gene: ACAD9 (3q21.3)
- Gene: ACADL (2q34)
- Gene: ACADM (1p31.1)
- Gene: ACADS (12q24.31)
- Gene: ACADSB (10q26.13)
- Gene: ACADVL (17p13.1)
- Gene: ACAT1 (11q22.3)
- Gene: ACOX1 (17q25.1)
- Gene: ACSF3 (16q24.3)
- Gene: ACTN1 (14q24.1)
- Gene: ADA (20q13.12)
- Gene: ADAMTS13 (9q34.2)
- Gene: ADGRV1 (5q14.3)
- Gene: ADK (10q22.2)
- Gene: ADSL (22q13.1)
- Gene: AGA (4q34.3)
- Gene: AGL (1p21.2)
- Gene: AGXT (2q37.3)
- Gene: AHCY (20q11.22)
- Gene: AICDA (12p13.31)
- Gene: AIFM1 (Xq26.1)
- Gene: AKAP9 (7q21.2)
- Gene: AKR1D1 (7q33)
- Gene: AKT2 (19q13.2)
- Gene: ALAS2 (Xp11.21)
- Gene: ALDH3A2 (17p11.2)
- Gene: ALDH5A1 (6p22.3)
- Gene: ALDH6A1 (14q24.3)
- Gene: ALDH7A1 (5q23.2)
- Gene: ALDOA (16p11.2)
- Gene: ALDOB (9q31.1)
- Gene: ALMS1 (2p13.1)
- Gene: ALOX12B (17p13.1)
- Gene: ALOXE3 (17p13.1)
- Gene: ALPL (1p36.12)
- Gene: AMT (3p21.31)
- Gene: ANK1 (8p11.21)
- Gene: ANKRD26 (10p12.1)
- Gene: APOC2 (19q13.32)
- Gene: ARG1 (6q23.2)
- Gene: ARSA (22q13.33)
- Gene: ARSB (5q14.1)
- Gene: ASL (7q11.21)
- Gene: ASNS (7q21.3)
- Gene: ASPA (17p13.2)
- Gene: ASPM (1q31.3)
- Gene: ASS1 (9q34.11)
- Gene: ATP6V1B1 (2p13.3)
- Gene: ATP7A (Xq21.1)
- Gene: ATP7B (13q14.3)
- Gene: ATP8B1 (18q21.31)
- Gene: ATR (3q23)
- Gene: ATRX (Xq21.1)
- Gene: AUH (9q22.31)
- Gene: BCKDHA (19q13.2)
- Gene: BCKDHB (6q14.1)
- Gene: BCKDK (16p11.2)
- Gene: BCS1L (2q35)
- Gene: BDNF (11p14.1)
- Gene: BLNK (10q24.1)
- Gene: BRAF (7q34)
- Gene: BRCA2 (13q13.1)
- Gene: BSND (1p32.3)
- Gene: BTD (3p25.1)
- Gene: BTK (Xq22.1)
- Gene: CABS1 (4q13.3)
- Gene: CACNA1C (12p13.33)
- Gene: CACNA1D (3p21.1)
- Gene: CACNB2 (10p12.33-12.31)
- Gene: CALM1 (14q32.11)
- Gene: CARD11 (7p22.2)
- Gene: CASK (Xp11.4)
- Gene: CASR (3q13.33-21.1)
- Gene: CBS (21q22.3)
- Gene: CD19 (16p11.2)
- Gene: CD247 (1q24.2)
- Gene: CD320 (19p13.2)
- Gene: CD3D (11q23.3)
- Gene: CD3E (11q23.3)
- Gene: CD3G (11q23.3)
- Gene: CD40 (20q13.12)
- Gene: CD40LG (Xq26.3)
- Gene: CD79A (19q13.2)
- Gene: CD79B (17q23.3)
- Gene: CD81 (11p15.5)
- Gene: CDAN1 (15q15.2)
- Gene: CDIN1 (15q14)
- Gene: CDK5RAP2 (9q33.2)
- Gene: CDKL5 (Xp22.13)
- Gene: CENPJ (13q12.12-12.13)
- Gene: CEP152 (15q21.1)
- Gene: CEP290 (12q21.32)
- Gene: CERS3 (15q26.3)
- Gene: CFTR (7q31.2)
- Gene: CHD7 (8q12.2)
- Gene: COA5 (2q11.2)
- Gene: COL11A1 (1p21.1)
- Gene: COL17A1 (10q25.1)
- Gene: COL1A1 (17q21.33)
- Gene: COL1A2 (7q21.3)
- Gene: COL7A1 (3p21.31)
- Gene: COMP (19p13.11)
- Gene: COMT (22q11.21)
- Gene: COQ2 (4q21.23)
- Gene: COQ9 (16q21)
- Gene: CORO1A (16p11.2)
- Gene: COX15 (10q24.2)
- Gene: CPS1 (2q34)
- Gene: CPT1A (11q13.3)
- Gene: CPT2 (1p32.3)
- Gene: CR2 (1q32.2)
- Gene: CRTAP (3p22.3)
- Gene: CSTB (21q22.3)
- Gene: CTNS (17p13.2)
- Gene: CTPS1 (1p34.2)
- Gene: CTSA (20q13.12)
- Gene: CTSD (11p15.5)
- Gene: CYP11B1 (8q24.3)
- Gene: CYP11B2 (8q24.3)
- Gene: CYP17A1 (10q24.32)
- Gene: CYP4F22 (19p13.12)
- Gene: D2HGDH (2q37.3)
- Gene: DBT (1p21.2)
- Gene: DCLRE1C (10p13)
- Gene: DDC (7p12.2-12.1)
- Gene: DHCR7 (11q13.4)
- Gene: DLAT (11q23.1)
- Gene: DLD (7q31.1)
- Gene: DNA2 (10q21.3)
- Gene: DNAJC19 (3q26.33)
- Gene: DOCK8 (9p24.3)
- Gene: DOLK (9q34.11)
- Gene: DUOX2 (15q21.1)
- Gene: DUOXA2 (15q21.1)
- Gene: EDN3 (20q13.32)
- Gene: EGR2 (10q21.3)
- Gene: EIF2AK3 (2p11.2)
- Gene: ELANE (19p13.3)
- Gene: EPB42 (15q15.2)
- Gene: EPM2A (6q24.3)
- Gene: ETFA (15q24.2-24.3)
- Gene: ETFB (19q13.41)
- Gene: ETFDH (4q32.1)
- Gene: ETHE1 (19q13.31)
- Gene: EVC (4p16.2)
- Gene: EVC2 (4p16.2)
- Gene: EYA1 (8q13.3)
- Gene: EYA4 (6q23.2)
- Gene: F10 (13q34)
- Gene: F11 (4q35.2)
- Gene: F13A1 (6p25.1)
- Gene: F2 (11p11.2)
- Gene: F5 (1q24.2)
- Gene: F7 (13q34)
- Gene: F8 (Xq28)
- Gene: F9 (Xq27.1)
- Gene: FAH (15q25.1)
- Gene: FANCA (16q24.3)
- Gene: FANCB (Xp22.2)
- Gene: FANCC (9q22.32)
- Gene: FANCD2 (3p25.3)
- Gene: FBN1 (15q21.1)
- Gene: FBP1 (9q22.32)
- Gene: FGA (4q31.3)
- Gene: FGB (4q31.3)
- Gene: FGFR2 (10q26.13)
- Gene: FGG (4q32.1)
- Gene: FH (1q43)
- Gene: FKTN (9q31.2)
- Gene: FOXG1 (14q12)
- Gene: FOXRED1 (11q24.2)
- Gene: FRAS1 (4q21.21)
- Gene: FUCA1 (1p36.11)
- Gene: G6PD (Xq28)
- Gene: GAA (17q25.3)
- Gene: GALC (14q31.3)
- Gene: GALE (1p36.11)
- Gene: GALK1 (17q25.1)
- Gene: GALNS (16q24.3)
- Gene: GALT (9p13.3)
- Gene: GAMT (19p13.3)
- Gene: GATA1 (Xp11.23)
- Gene: GATA3 (10p14)
- Gene: GATM (15q21.1)
- Gene: GBE1 (3p12.2)
- Gene: GCDH (19p13.13)
- Gene: GCH1 (14q22.2)
- Gene: GCK (7p13)
- Gene: GFI1B (9q34.13)
- Gene: GJB2 (13q12.11)
- Gene: GK (Xp21.2)
- Gene: GLA (Xq22.1)
- Gene: GLB1 (3p22.3)
- Gene: GLDC (9p24.1)
- Gene: GLIS3 (9p24.2)
- Gene: GLYCTK (3p21.2)
- Gene: GNA11 (19p13.3)
- Gene: GNAS (20q13.32)
- Gene: GNE (9p13.3)
- Gene: GNMT (6p21.1)
- Gene: GNPTAB (12q23.2)
- Gene: GP1BA (17p13.2)
- Gene: GP9 (3q21.3)
- Gene: GPC3 (Xq26.2)
- Gene: GPHN (14q23.3)
- Gene: GPSM2 (1p13.3)
- Gene: GSS (20q11.22)
- Gene: GUSB (7q11.21)
- Gene: GYS2 (12p12.1)
- Gene: HADH (4q25)
- Gene: HADHA (2p23.3)
- Gene: HADHB (2p23.3)
- Gene: HBB (11p15.4)
- Gene: HESX1 (3p14.3)
- Gene: HEXA (15q23)
- Gene: HEXB (5q13.3)
- Gene: HGD (3q13.33)
- Gene: HIBCH (2q32.2)
- Gene: HLCS (21q22.13)
- Gene: HMGCL (1p36.11)
- Gene: HMGCS2 (1p12)
- Gene: HNF1A (12q24.31)
- Gene: HNF1B (17q12)
- Gene: HNF4A (20q13.12)
- Gene: HPD (12q24.31)
- Gene: HPRT1 (Xq26.2-26.3)
- Gene: HRAS (11p15.5)
- Gene: HSD17B10 (Xp11.22)
- Gene: HSD17B4 (5q23.1)
- Gene: HSD3B2 (1p12)
- Gene: ICOS (2q33.2)
- Gene: IER3IP1 (18q21.1)
- Gene: IGF1 (12q23.2)
- Gene: IGF1R (15q26.3)
- Gene: IGLL1 (22q11.23)
- Gene: IKBKB (8p11.21)
- Gene: IL12RB1 (19p13.11)
- Gene: IL2 (4q27)
- Gene: IL21R (16p12.1)
- Gene: IL2RA (10p15.1)
- Gene: IL2RG (Xq13.1)
- Gene: IL7R (5p13.2)
- Gene: INS (11p15.5)
- Gene: INSR (19p13.2)
- Gene: IRF8 (16q24.1)
- Gene: ITGA2B (17q21.31)
- Gene: ITGA6 (2q31.1)
- Gene: ITGB3 (17q21.32)
- Gene: ITGB4 (17q25.1)
- Gene: IVD (15q15.1)
- Gene: JAG1 (20p12.2)
- Gene: JAGN1 (3p25.3)
- Gene: JAK3 (19p13.11)
- Gene: KCNE1 (21q22.12)
- Gene: KCNH2 (7q36.1)
- Gene: KCNJ10 (1q23.2)
- Gene: KCNJ11 (11p15.1)
- Gene: KCNQ1 (11p15.5-15.4)
- Gene: KCNQ2 (20q13.33)
- Gene: KCNQ3 (8q24.22)
- Gene: KCNQ4 (1p34.2)
- Gene: KDM6A (Xp11.3)
- Gene: KLF1 (19p13.13)
- Gene: KMT2D (12q13.12)
- Gene: KRAS (12p12.1)
- Gene: KRT5 (12q13.13)
- Gene: LAMA2 (6q22.33)
- Gene: LAMA3 (18q11.2)
- Gene: LAMB3 (1q32.2)
- Gene: LAMC2 (1q25.3)
- Gene: LAMTOR2 (1q22)
- Gene: LCK (1p35.2)
- Gene: LHX3 (9q34.3)
- Gene: LHX4 (1q25.2)
- Gene: LIAS (4p14)
- Gene: LIG4 (13q33.3)
- Gene: LIPA (10q23.31)
- Gene: LIPN (10q23.31)
- Gene: LMBRD1 (6q13)
- Gene: LRBA (4q31.3)
- Gene: LRPPRC (2p21)
- Gene: LRRC8A (9q34.11)
- Gene: MAGT1 (Xq21.1)
- Gene: MALT1 (18q21.32)
- Gene: MAN2B1 (19p13.13)
- Gene: MAP2K1 (15q22.31)
- Gene: MAP2K2 (19p13.3)
- Gene: MASTL (10p12.1)
- Gene: MAT1A (10q22.3)
- Gene: MCCC1 (3q27.1)
- Gene: MCCC2 (5q13.2)
- Gene: MCM4 (8q11.21)
- Gene: MCPH1 (8p23.1)
- Gene: MECP2 (Xq28)
- Gene: MEF2C (5q14.3)
- Gene: MITF (3p13)
- Gene: MKKS (20p12.2)
- Gene: MLYCD (16q23.3)
- Gene: MMAA (4q31.21)
- Gene: MMAB (12q24.11)
- Gene: MMACHC (1p34.1)
- Gene: MMADHC (2q23.2)
- Gene: MMUT (6p12.3)
- Gene: MOCS1 (6p21.2)
- Gene: MOCS2 (5q11.2)
- Gene: MPC1 (6q27)
- Gene: MTHFR (1p36.22)
- Gene: MTR (1q43)
- Gene: MTRFR (12q24.31)
- Gene: MTRR (5p15.31)
- Gene: MVK (12q24.11)
- Gene: MYCN (2p24.3)
- Gene: NAA10 (Xq28)
- Gene: NAGS (17q21.31)
- Gene: NDUFA11 (19p13.3)
- Gene: NDUFA2 (5q31.3)
- Gene: NDUFAF1 (15q15.1)
- Gene: NDUFAF2 (5q12.1)
- Gene: NDUFAF5 (20p12.1)
- Gene: NDUFAF6 (8q22.1)
- Gene: NDUFS2 (1q23.3)
- Gene: NDUFS4 (5q11.2)
- Gene: NDUFS7 (19p13.3)
- Gene: NDUFV2 (18p11.22)
- Gene: NEU1 (6p21.33)
- Gene: NFKB2 (10q24.32)
- Gene: NFU1 (2p13.3)
- Gene: NHEJ1 (2q35)
- Gene: NHLRC1 (6p22.3)
- Gene: NIPAL4 (5q33.3)
- Gene: NIPBL (5p13.2)
- Gene: NOTCH2 (1p12)
- Gene: NPC1 (18q11.2)
- Gene: NPC2 (14q24.3)
- Gene: NR0B1 (Xp21.2)
- Gene: NRAS (1p13.2)
- Gene: NSD1 (5q35.3)
- Gene: OAT (10q26.13)
- Gene: OGDH (7p13)
- Gene: OPA3 (19q13.32)
- Gene: OPLAH (8q24.3)
- Gene: OPRM1 (6q25.2)
- Gene: OTC (Xp11.4)
- Gene: OXCT1 (5p13.1)
- Gene: P2RX1 (17p13.2)
- Gene: P2RY12 (3q25.1)
- Gene: P3H1 (1p34.2)
- Gene: PAH (12q23.2)
- Gene: PAX2 (10q24.31)
- Gene: PAX3 (2q36.1)
- Gene: PAX8 (2q14.1)
- Gene: PC (11q13.2)
- Gene: PCBD1 (10q22.1)
- Gene: PCCA (13q32.3)
- Gene: PCK1 (20q13.31)
- Gene: PCNT (21q22.3)
- Gene: PDHA1 (Xp22.12)
- Gene: PDHB (3p14.3)
- Gene: PDHX (11p13)
- Gene: PDP1 (8q22.1)
- Gene: PDSS1 (10p12.1)
- Gene: PDSS2 (6q21)
- Gene: PDX1 (13q12.2)
- Gene: PEPD (19q13.11)
- Gene: PET100 (19p13.2)
- Gene: PHGDH (1p12)
- Gene: PHOX2B (4p13)
- Gene: PIK3CD (1p36.22)
- Gene: PKD2 (4q22.1)
- Gene: PKHD1 (6p12.3-12.2)
- Gene: PKLR (1q22)
- Gene: PLEC (8q24.3)
- Gene: PLOD1 (1p36.22)
- Gene: PMM2 (16p13.2)
- Gene: PMP22 (17p12)
- Gene: PNP (14q11.2)
- Gene: PNPLA1 (6p21.31)
- Gene: PNPO (17q21.32)
- Gene: PNPT1 (2p16.1)
- Gene: POLG (15q26.1)
- Gene: POMC (2p23.3)
- Gene: POMT1 (9q34.13)
- Gene: POMT2 (14q24.3)
- Gene: POU1F1 (3p11.2)
- Gene: PPM1K (4q22.1)
- Gene: PRKAG2 (7q36.1)
- Gene: PRKDC (8q11.21)
- Gene: PRODH (22q11.21)
- Gene: PROP1 (5q35.3)
- Gene: PROS1 (3q11.1)
- Gene: PRPS1 (Xq22.3)
- Gene: PSAP (10q22.1)
- Gene: PSAT1 (9q21.2)
- Gene: PSEN1 (14q24.2)
- Gene: PSPH (7p11.2)
- Gene: PTF1A (10p12.2)
- Gene: PTPN11 (12q24.13)
- Gene: PTPRC (1q31.3-32.1)
- Gene: PTS (11q23.1)
- Gene: QDPR (4p15.32)
- Gene: RAB18 (10p12.1)
- Gene: RAB3GAP1 (2q21.3)
- Gene: RAB3GAP2 (1q41)
- Gene: RAC2 (22q13.1)
- Gene: RAF1 (3p25.2)
- Gene: RAG1 (11p12)
- Gene: RAG2 (11p12)
- Gene: RB1 (13q14.2)
- Gene: RBBP8 (18q11.2)
- Gene: RBM8A (1q21.1)
- Gene: RET (10q11.21)
- Gene: RMRP (9p13.3)
- Gene: RPS19 (19q13.2)
- Gene: RPS6KA3 (Xp22.12)
- Gene: SALL1 (16q12.1)
- Gene: SALL4 (20q13.2)
- Gene: SBDS (7q11.21)
- Gene: SCN1A (2q24.3)
- Gene: SCN2A (2q24.3)
- Gene: SDHAF1 (19q13.12)
- Gene: SERAC1 (6q25.3)
- Gene: SERPINA1 (14q32.13)
- Gene: SERPINC1 (1q25.1)
- Gene: SERPING1 (11q12.1)
- Gene: SFTPB (2p11.2)
- Gene: SFTPC (8p21.3)
- Gene: SFTPD (10q22.3)
- Gene: SHOC2 (10q25.2)
- Gene: SIX1 (14q23.1)
- Gene: SIX5 (19q13.32)
- Gene: SLC16A1 (1p13.2)
- Gene: SLC22A5 (5q31.1)
- Gene: SLC25A1 (22q11.21)
- Gene: SLC25A13 (7q21.3)
- Gene: SLC25A19 (17q25.1)
- Gene: SLC25A20 (3p21.31)
- Gene: SLC26A2 (5q32)
- Gene: SLC2A1 (1p34.2)
- Gene: SLC37A4 (11q23.3)
- Gene: SLC3A1 (2p21)
- Gene: SLC46A1 (17q11.2)
- Gene: SLC4A1 (17q21.31)
- Gene: SLC52A1 (17p13.2)
- Gene: SLC5A5 (19p13.11)
- Gene: SLC7A7 (14q11.2)
- Gene: SLC9A6 (Xq26.3)
- Gene: SLCO1B1 (12p12.1)
- Gene: SLCO1B3 (12p12.2)
- Gene: SMPD1 (11p15.4)
- Gene: SOS1 (2p22.1)
- Gene: SOX2 (3q26.33)
- Gene: SOX6 (11p15.2)
- Gene: SPINK1 (5q32)
- Gene: SPR (2p13.2)
- Gene: SPRED1 (15q14)
- Gene: SPTA1 (1q23.1)
- Gene: SPTAN1 (9q34.11)
- Gene: SPTB (14q23.3)
- Gene: ST3GAL5 (2p11.2)
- Gene: STAR (8p11.23)
- Gene: STIL (1p33)
- Gene: STIM1 (11p15.4)
- Gene: STS (Xp22.31)
- Gene: STXBP1 (9q34.11)
- Gene: SUCLA2 (13q14.2)
- Gene: SUCLG1 (2p11.2)
- Gene: SUGCT (7p14.1)
- Gene: SUMF1 (3p26.1)
- Gene: SUOX (12q13.2)
- Gene: TAT (16q22.2)
- Gene: TAZ (Xq28)
- Gene: TBX19 (1q24.2)
- Gene: TBX5 (12q24.21)
- Gene: TCF4 (18q21.2)
- Gene: TCN2 (22q12.2)
- Gene: TG (8q24.22)
- Gene: TGM1 (14q12)
- Gene: THRA (17q21.1)
- Gene: TJP2 (9q21.11)
- Gene: TNFRSF13B (17p11.2)
- Gene: TNFRSF13C (22q13.2)
- Gene: TPO (2p25.3)
- Gene: TRHR (8q23.1)
- Gene: TRMU (22q13.31)
- Gene: TSC1 (9q34.13)
- Gene: TSC2 (16p13.3)
- Gene: TSHB (1p13.2)
- Gene: TSHR (14q31.1)
- Gene: TSPYL1 (6q22.1)
- Gene: UBE3A (15q11.2)
- Gene: UCP2 (11q13.4)
- Gene: UGT1A1 (2q37.1)
- Gene: UMPS (3q21.2)
- Gene: UNG (12q24.11)
- Gene: UPB1 (22q11.23)
- Gene: UQCC2 (6p21.31)
- Gene: UQCRC2 (16p12.2)
- Gene: UROS (10q26.2)
- Gene: WAS (Xp11.23)
- Gene: WDR62 (19q13.12)
- Gene: WFS1 (4p16.1)
- Gene: WNK1 (12p13.33)
- Gene: WT1 (11p13)
- Gene: ZAP70 (2q11.2)
- Gene: ZEB2 (2q22.3)
Establish or confirm diagnosis
- The clinical utility of the test refers to the likelihood that the test will, by prompting an intervention, result in an improved health outcome. The clinical utility of a genetic test is based on the health benefits related to the interventions offered to people with positive test results. Theoretically, there are several strategies that might improve the health outcome of people with a genetic susceptibility to disease and the main one is performing of gene test. Upon obtaining the gene test results, it is possible to apply specific treatment, to perform screening for the mutations within family or population of affected patients, and in general, to improve patient’s quality of life.
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Sequencing, deletion/duplication of this gene and related genes should be performed in all individuals suspected for this particular phenotype. In parallel, other genes reported to be related with this clinical phenotype should also be analyzed for the presence of mutations, due to the overlap in many clinical features caused by those particular genes. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.
Citations
Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Custom Deletion/Duplication Testing
- Custom Sequence Analysis
- Custom Prenatal Testing
- Custom mutation-specific/Carrier testing
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.