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
- Annual Review past due read more
- 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 order codeHelpLaboratory's order or catalog code for the test (used in the order requisition form).: 5289
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)
- 2-methyl-3-hydroxybutyric aciduria (HSD10MD)
- 3 Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D)
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- 3-Methylglutaconic aciduria type 1 (MGCA1)
- 3-Methylglutaconic aciduria type 2 (BTHS)
- 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)
- 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
- 4-Hydroxyphenylpyruvate dioxygenase deficiency (TYRSN3)
- 46,XY sex reversal, type 2 (SRXY2)
- 5-Oxoprolinase deficiency (OPLAHD)
- 6-pyruvoyl-tetrahydropterin synthase deficiency (HPABH4A)
- ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (CDAN1B)
- ATR-X syndrome (ATRX)
- Achondrogenesis, type IB (ACG1B)
- Acne inversa, familial, 3 (ACNINV3)
- Acrocephalosyndactyly type I
- Acromicric dysplasia (ACMICD)
- 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 junctional epidermolysis bullosa (GABEB)
- 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-1-antitrypsin deficiency (A1ATD)
- Alpha-ketoglutarate dehydrogenase deficiency
- Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
- Alstrom syndrome (ALMS)
- Alveolar rhabdomyosarcoma (RMS2)
- Amelogenesis imperfecta, type IA (AI1A)
- Aminoglycoside-induced deafness
- Amish lethal microcephaly (MCPHA)
- Anauxetic dysplasia 1 (ANXD1)
- Anemia without thromobocytopenia, X-linked (XLANP)
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Angelman syndrome (AS)
- 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 2 (AO2)
- Atrial fibrillation, familial, 3 (ATFB3)
- Autism, susceptibility to, X-linked 3 (AUTSX3)
- Autoimmune thyroid disease 3 (AITD3)
- 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 (PKD4)
- BLOOD GROUP--LUTHERAN INHIBITOR (INLU)
- Barakat syndrome (HDR)
- Bardet-Biedl syndrome 14 (BBS14)
- Bardet-Biedl syndrome 6 (BBS6)
- Bartter syndrome type 4 (BARTS4A)
- Beckwith-Wiedemann syndrome (BWS)
- Benign familial neonatal seizures 1 (BFNS1)
- Benign familial neonatal seizures 2 (BFNS2)
- Benign familial neonatal-infantile seizures (BFIS3)
- 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)
- Bile acid synthesis defect, congenital, 2 (CBAS2)
- 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 (BOS1)
- Branchiootic syndrome 3 (BOS3)
- 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)
- Carbohydrate-deficient glycoprotein syndrome type I (CDG1A)
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2)
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3)
- 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 I deficiency
- Carnitine palmitoyltransferase II deficiency, infantile
- Carnitine palmitoyltransferase II deficiency, lethal neonatal
- Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
- Cataract 41 (CTRCT41)
- Cerebellar ataxia infantile with progressive external ophthalmoplegia (PEOB1)
- Ceroid lipofuscinosis neuronal 10 (CLN10)
- Charcot-Marie-Tooth disease and deafness (CMT1E)
- 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)
- Cholesterol monooxygenase (side-chain cleaving) deficiency (LCAH)
- Chondroectodermal dysplasia (EVC)
- Christianson syndrome (MRXSCH)
- Chronic obstructive pulmonary disease (COPD)
- Chudley-McCullough syndrome (CMCS)
- Citrullinemia type I (CTNL1)
- 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, 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 absence of the vas deferens (CBAVD)
- Congenital central hypoventilation (CCHS)
- Congenital defect of folate absorption
- Congenital disorder of glycosylation type 1M (CDG1M)
- 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 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 (COWCK)
- Craniofacial deafness hand syndrome (CDHS)
- Crigler-Najjar syndrome
- Crigler-Najjar syndrome, type II
- Crouzon syndrome
- Cryptophthalmos syndrome (FRASRS1)
- Curry-Hall syndrome (WAD)
- Cushing's syndrome (AIMAH1)
- Cutis Gyrata syndrome of Beare and Stevenson (BSTVS)
- Cutis laxa, X-linked (OHS)
- Cyclical neutropenia
- Cystic fibrosis (CF)
- Cystinosis, ocular nonnephropathic
- Cystinuria (CSNU)
- D-2-hydroxyglutaric aciduria 1 (D2HGA1)
- DFNA 2 Nonsyndromic Hearing Loss (DFNA2A)
- Deafness, X-linked 1 (DFNX1)
- 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 70 (DFNB70)
- Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Deficiency of 3-hydroxyacyl-CoA dehydrogenase (M/SCHAD)
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- 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
- Deficiency of glycerate kinase
- 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 AND insipidus with optic atrophy AND deafness (WFS1)
- Diabetes mellitus type 2 (NIDDM)
- Diabetes mellitus, insulin-dependent, 10 (IDDM10)
- Diabetes mellitus, insulin-dependent, 2
- Diabetes mellitus, insulin-dependent, 20 (IDDM20)
- Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH)
- Diabetes mellitus, permanent neonatal, with cerebellar agenesis (PACA)
- Diamond-Blackfan anemia 1 (DBA1)
- Diastrophic dysplasia (DTD)
- Diffuse mesangial sclerosis (NPHS4)
- 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
- Dowling-Degos disease 1
- Drash syndrome (DDS)
- Duane-radial ray syndrome (DRRS)
- Dubin-Johnson syndrome (DJS)
- Dysfibrinogenemia, congenital
- Dystonia 5, Dopa-responsive type (DRD)
- Dystonia 9 (DYT9)
- Early infantile epileptic encephalopathy 11 (EIEE11)
- Early infantile epileptic encephalopathy 2 (EIEE2)
- Early infantile epileptic encephalopathy 4 (EIEE4)
- Early infantile epileptic encephalopathy 5 (EIEE5)
- Early infantile epileptic encephalopathy 7 (EIEE7)
- Ectopia lentis, isolated, autosomal dominant (ECTOL1)
- Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV)
- Ehlers-Danlos syndrome, classic type (EDSCL1)
- Ehlers-Danlos syndrome, hydroxylysine-deficient (EDSKSCL1)
- Ehlers-Danlos syndrome, procollagen proteinase deficient (EDSARTH1)
- Elliptocytosis 2 (EL2)
- Encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)
- Enlarged vestibular aqueduct (DFNB4)
- Epidermolysa bullosa simplex and limb girdle muscular dystrophy (EBSMD)
- Epidermolysis bullosa herpetiformis, Dowling-Meara (EBSDM)
- Epidermolysis bullosa junctionalis with pyloric atresia
- Epidermolysis bullosa pruriginosa
- Epidermolysis bullosa simplex with migratory circinate erythema
- Epidermolysis bullosa simplex with mottled pigmentation (EBSMP)
- Epidermolysis bullosa simplex with nail dystrophy (EBSND)
- Epidermolysis bullosa simplex with pyloric atresia (EBSPA)
- Epidermolysis bullosa simplex, Cockayne-Touraine type
- 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 hyperinsulinemic hypoglycemia (HHF7)
- 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 hypoplastic, glomerulocystic kidney (RCAD)
- 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 (FBCG1)
- Focal cortical dysplasia type II (FCORD2)
- Focal segmental glomerulosclerosis 7 (FSGS7)
- 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)
- GLUT1 deficiency syndrome 2 (GLUT1DS2)
- GM1 gangliosidosis type 2
- GNE myopathy (NM)
- GRACILE syndrome (FLNMS)
- GTP cyclohydrolase I deficiency (HPABH4B)
- Galactosylceramide beta-galactosidase deficiency
- Gamma-aminobutyric acid transaminase deficiency
- Gangliosidosis GM1 type 3
- 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)
- Glutaric aciduria, type 2 (MADD)
- 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 of heart, lethal congenital
- Glycogen storage disease type III (GSD3)
- Glycogen storage disease, type II (GSD2)
- Glycogen storage disease, type IV (GSD4)
- Guillain-Barre syndrome, familial (GBS)
- HNSHA due to aldolase A deficiency (GSD12)
- Hajdu-Cheney syndrome (HJCYS)
- Hb SS disease (SCD)
- Heinz body anemia
- Hepatic adenomas, familial
- Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
- Hepatic methionine adenosyltransferase deficiency
- Hepatitis c virus, susceptibility to
- Hereditary angioedema type 1 (HAE1)
- Hereditary factor IX deficiency disease (HEMB)
- Hereditary factor VIII deficiency disease (HEMA)
- Hereditary factor XI deficiency disease
- Hereditary fructosuria
- Hereditary liability to pressure palsies (HNPP)
- Hereditary pancreatitis (PCTT)
- Hereditary pyropoikilocytosis (HPP)
- Hereditary sensory and autonomic neuropathy type IIA (HSAN2A)
- Hereditary sideroblastic anemia (SIDBA1)
- Hirschsprung disease 1 (HSCR1)
- Hirschsprung disease 4 (HSCR4)
- Histiocytic medullary reticulosis
- Holocarboxylase synthetase deficiency
- Holt-Oram syndrome (HOS)
- Homocysteinemia due to MTHFR deficiency
- Homocystinuria due to CBS deficiency
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)
- 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 3 (HHF3)
- Hyperinsulinemic hypoglycemia familial 5 (HHF5)
- Hyperinsulinemic hypoglycemia, familial, 4 (HHF4)
- 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)
- Hypocalciuric hypercalcemia, familial, type 1 (HHC1)
- Hypocalciuric hypercalcemia, familial, type II (HHC2)
- Hypoglycemia with deficiency of glycogen synthetase in the liver (GSD0A)
- Hypoglycemia, neonatal, simulating foetopathia diabetica (HIHGHH)
- Hypothyroidism, congenital, nongoitrous, 1 (CHNG1)
- Hypothyroidism, congenital, nongoitrous, 6 (CHNG6)
- Hystrix-like ichthyosis with deafness
- I cell disease
- IL21R immunodeficiency (IMD56)
- IVIC syndrome (OORS)
- Ige responsiveness, atopic (IGER)
- Immune dysfunction with T-cell inactivation due to calcium entry defect 2 (IMD10)
- 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 with hyper IgM type 1 (HIGM1)
- Immunodeficiency with hyper IgM type 2 (HIGM2)
- Immunodeficiency with hyper IgM type 3 (HIGM3)
- Immunodeficiency with hyper IgM type 5 (HIGM5)
- Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN)
- Immunoglobulin A deficiency 2 (IGAD2)
- Infantile GM1 gangliosidosis
- Infantile cortical hyperostosis
- Insulin-like growth factor 1 resistance to (IGF1RES)
- Insulin-like growth factor I deficiency
- 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)
- 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
- Juvenile myelomonocytic leukemia (JMML)
- Juvenile nephropathic cystinosis
- Kabuki syndrome 1 (KABUK1)
- Kabuki syndrome 2 (KABUK2)
- Kallmann syndrome 5 (KAL5)
- Keratitis-ichthyosis-deafness syndrome, autosomal dominant
- Keratoderma palmoplantar deafness
- Klein-Waardenberg's syndrome (WS3)
- Knuckle pads, deafness AND leukonychia syndrome
- Krabbe disease atypical due to Saposin A deficiency
- LEOPARD syndrome 1 (LPRD1)
- LEOPARD syndrome 2 (LPRD2)
- LEOPARD syndrome 3 (LPRD3)
- Lafora disease
- Laryngoonychocutaneous syndrome (LOCS)
- Leber congenital amaurosis 10 (LCA10)
- Legius syndrome (LGSS)
- Leigh syndrome (LS)
- Leigh syndrome, French Canadian type (LSFC)
- 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)
- Liver failure acute infantile (LFIT)
- 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)
- MECP2 duplication syndrome (MRXSL)
- METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (MAHCF)
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (MAHCJ)
- 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)
- Martsolf syndrome
- Maturity-onset diabetes of the young, type 1 (MODY1)
- Maturity-onset diabetes of the young, type 2 (MODY2)
- 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 3 (MODY3)
- Maturity-onset diabetes of the young, type 4 (MODY4)
- McKusick Kaufman syndrome (MKKS)
- Meacham syndrome
- Meckel syndrome type 4 (MKS4)
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)
- Melnick-Fraser syndrome (BOR1)
- Menkes kinky-hair syndrome (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)
- Mental retardation-hypotonic facies syndrome X-linked, 1 (MRXHF1)
- Merosin deficient congenital muscular dystrophy (MDC1A)
- Metachondromatosis (METCDS)
- Metachromatic leukodystrophy (MLD)
- Metaphyseal chondrodysplasia, McKusick type (CHH)
- Metaphyseal dysplasia without hypotrichosis (MDWH)
- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)
- Methylmalonic acidemia with homocystinuria (MAHCC)
- Methylmalonic acidemia with homocystinuria cblD (MAHCD)
- Methylmalonic aciduria cblA type
- Methylmalonic aciduria cblB type
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Methylmalonic aciduria due to transcobalamin receptor defect
- Mevalonic aciduria (MEVA)
- Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2)
- Microcephaly with mental retardation and digital anomalies (JWDS)
- Microcephaly, epilepsy, and diabetes syndrome (MEDS)
- Microphthalmia syndromic 3 (MCOPS3)
- 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
- Mitochondrial complex III deficiency (MC3DN1)
- Mitochondrial complex III deficiency, nuclear type 5 (MC3DN5)
- Mitochondrial complex III deficiency, nuclear type 7 (MC3DN7)
- 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)
- Mucopolysaccharidosis type VI (MPS6)
- Mucopolysaccharidosis type VII (MPS7)
- Mucopolysaccharidosis, MPS-IV-A (MPS4A)
- Mucopolysaccharidosis, MPS-IV-B (MPS4B)
- Multiple endocrine neoplasia, type 2a (MEN2A)
- Multiple endocrine neoplasia, type 2b (MEN2B)
- Multiple epiphyseal dysplasia 1 (EDM1)
- Multiple epiphyseal dysplasia 4 (EDM4)
- Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)
- Multiple sulfatase deficiency (MSD)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MDDGA1)
- Mutilating keratoderma (VOWNKL)
- Myocardial infarction 1 (MCI1)
- Myopathy with tubular aggregates (TAM1)
- 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)
- Neu-Laxova syndrome 1 (NLS1)
- Neu-laxova syndrome 2 (NLS2)
- Neural tube defects, folate-sensitive (NTDFS)
- Neuroblastoma 2 (NBLST2)
- Neutropenia, severe congenital 1, autosomal dominant (SCN1)
- Neutrophil immunodeficiency syndrome
- Niemann-Pick disease type C2 (NPC2)
- Niemann-Pick disease, type A
- Niemann-Pick disease, type B
- 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)
- Obesity (EO Obesity)
- Optic atrophy and cataract, autosomal dominant (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)
- Ovalocytosis, southeast Asian (SAO)
- Pancreatic agenesis 2 (PAGEN2)
- Pancreatic agenesis, congenital (PAGEN1)
- Panic disorder 1 (PAND1)
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (HRH)
- Permanent neonatal diabetes mellitus (PNDM)
- Perrault syndrome 1 (PRLTS1)
- Persistent hyperinsulinemic hypoglycemia of infancy (HHF1)
- 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 1 (CPHD1)
- Pituitary hormone deficiency, combined 2 (CPHD2)
- Pituitary hormone deficiency, combined 3 (CPHD3)
- Pituitary hormone deficiency, combined 4 (CPHD4)
- 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)
- Polyglucosan body disease, adult (APBN)
- Porokeratosis, disseminated superficial actinic 1 (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 familial intrahepatic cholestasis 4 (PFIC4)
- Progressive intrahepatic cholestasis (PFIC1)
- Progressive osseous heteroplasia (POH)
- Progressive sclerosing poliodystrophy (MTDPS4A)
- Prolidase deficiency
- Proline dehydrogenase deficiency (HYRPRO1)
- Proopiomelanocortin deficiency (OBAIRH)
- Propionyl-CoA carboxylase deficiency (PROP)
- Protein S deficiency (THPH5)
- Prothrombin deficiency, congenital
- Protoporphyria, erythropoietic, X-linked (XLEPP)
- Pseudo von Willebrand disease (VWDP)
- Pseudo-Hurler polydystrophy (ML3)
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (PSACH)
- Pseudohyperkalemia Cardiff (CHC)
- Pseudohypoaldosteronism type 2C (PHA2C)
- Pseudohypoparathyroidism (PHP1A)
- Pseudohypoparathyroidism type 1B (PHP1B)
- Pseudohypoparathyroidism type 1C (PHP1C)
- Pseudoneonatal adrenoleukodystrophy
- Pseudopseudohypoparathyroidism (PPHP)
- Pulmonary hypertension, neonatal, susceptibility to (PHN)
- Purine-nucleoside phosphorylase deficiency
- Pyridoxal 5'-phosphate-dependent epilepsy (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)
- Reduced antithrombin III activity (AT3D)
- Renal adysplasia (RHDA1)
- Renal carnitine transport defect (CDSP)
- Renal coloboma syndrome (PAPRS)
- Renal tubular acidosis with progressive nerve deafness
- Renal tubular acidosis, distal, autosomal dominant
- Renal tubular acidosis, distal, with hemolytic anemia
- Retinoblastoma (RB1)
- Rett syndrome (RTT)
- Rett syndrome, congenital variant
- Rotor syndrome (HBLRR)
- Roussy-LĂ©vy syndrome
- Saccharopinuria
- Saethre-Chotzen syndrome (SCS)
- Salt and pepper developmental regression syndrome (SPDRS)
- Sandhoff disease
- Scaphocephaly, maxillary retrusion, and mental retardation
- SeSAME syndrome (SESAMES)
- Seckel syndrome 1 (SCKL1)
- Seckel syndrome 2 (SCKL2)
- Seckel syndrome 4 (SCKL4)
- Seckel syndrome 5 (SCKL5)
- Seckel syndrome 8 (SCKL8)
- Secondary hypothyroidism (CHNG4)
- Senior-Loken syndrome 6 (SLSN6)
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
- Sepiapterin reductase deficiency
- Septo-optic dysplasia sequence (SOD)
- Severe combined immunodeficiency disease (SCID)
- Severe combined immunodeficiency due to ADA deficiency
- Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
- Severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)
- Severe combined immunodeficiency, atypical (IMD48)
- 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 congenital neutropenia X-linked (SCNX)
- Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
- Severe myoclonic epilepsy in infancy (EIEE6)
- Severe neonatal-onset encephalopathy with microcephaly
- Short QT syndrome 1 (SQT1)
- Short QT syndrome 2 (SQT2)
- Shwachman syndrome (SDS1)
- Shy-Drager syndrome (MSA)
- Sialidosis, type II
- Sialuria
- Simpson-Golabi-Behmel syndrome (SGBS1)
- 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)
- 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)
- Sulfite oxidase deficiency (ISOD)
- Surfactant metabolism dysfunction, pulmonary, 1 (SMDP1)
- Surfactant metabolism dysfunction, pulmonary, 2 (SMDP2)
- Surfactant metabolism dysfunction, pulmonary, 3 (SMDP3)
- Surfactant metabolism dysfunction, pulmonary, 4 (SMDP4)
- Systemic lupus erythematosus 9 (SLEB9)
- Tay-Sachs disease (TSD)
- Tetralogy of Fallot (TOF)
- Thrombocytopenia 2 (THC2)
- Thrombocytopenia, X-linked (THC1)
- Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis (XLTT)
- Thrombophilia due to activated protein C resistance (THPH2)
- Thrombophilia due to protein S deficiency, autosomal recessive (THPH6)
- Thrombophilia, X-linked, due to factor IX defect (THPH8)
- Thyroglobulin synthesis defect (TDH5)
- Thyroid dysgenesis (CHNG2)
- Thyroid dyshormonogenesis 1 (TDH1)
- Thyroid dyshormonogenesis 6 (TDH6)
- Thyrotropin-releasing hormone resistance, generalized
- Tietz syndrome (TADS)
- Timothy syndrome (TS)
- Townes-Brocks syndrome 1 (TBS1)
- Transcobalamin II deficiency
- Transient neonatal diabetes mellitus 3 (TNDM3)
- Tropical calcific pancreatitis (TCP)
- Tuberous sclerosis 1 (TSC1)
- Tuberous sclerosis 2 (TSC2)
- Tyrosinemia type 2 (TYRSN2)
- Tyrosinemia type I (TYRSN1)
- UDPglucose-4-epimerase deficiency (GALE)
- Unverricht-Lundborg syndrome
- Upshaw-Schulman syndrome (TTP)
- Usher syndrome, type 2C (USH2C)
- Venous thrombosis (THPH1)
- Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4)
- Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
- Vitamin B2 deficiency (RBFVD)
- WFS1-Related Disorders (DFNA6)
- 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 (WD)
- Wiskott-Aldrich syndrome (WAS)
- Wolcott-Rallison dysplasia
- Wolff-Parkinson-White pattern
- 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 severe combined immunodeficiency (SCIDX1)
- beta Thalassemia (BTHAL)
- mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D)
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: C12orf65 (12q24.31)
- Gene: C15orf41 (15q14)
- 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: 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 (14q23.3-24.1)
- 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: 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)
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
Establish or confirm diagnosis
Citations
- 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.
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
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.