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)

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Specimen source

Molecular Genetics

CSequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)