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Inheritest® 500 PLUS Panel Disorders

Inheritest® 500 PLUS Panel
Disorders
Genes
3-Methylcrotonyl-CoA carboxylase deficiency
MCCC1, MCCC2
3M syndrome
CCDC8, CUL7, OBSL1
Abetalipoproteinemia
MTTP
Achromatopsia
CNGB3
Acrodermatitis enteropathica
SLC39A4
Acute infantile liver failure
LARS1, NBAS, TRMU
Adenosine deaminase deficiency
ADA
Adrenoleukodystrophy, X-linked
ABCD1
Agammaglobulinemia, X-linked
BTK
Aicardi-Goutières syndrome
RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1
Allan-Herndon-Dudley syndrome
SLC16A2
Alpha-mannosidosis
MAN2B1
Alpha-thalassemia
HBA1, HBA2
Alpha-thalassemia X-linked intellectual disability syndrome
ATRX
Alport syndrome
COL4A3, COL4A4, COL4A5
Alström syndrome
ALMS1
Andermann syndrome
SLC12A6
Arginase deficiency
ARG1
Argininosuccinic aciduria
ASL
Aromatic l-amino acid decarboxylase deficiency
DDC
Arterial tortuosity syndrome
SLC2A10
Arthrogryposis, mental retardation, and seizures (AMRS)
SLC35A3
Asparagine synthetase deficiency
ASNS
Aspartylglucosaminuria
AGA
Ataxia-telangiectasia
ATM
Ataxia with vitamin E deficiency
TTPA
ATP7A-related copper transport disorders, includes Menkes syndrome
ATP7A
Atransferrinemia
TF
Autoimmune polyglandular syndrome type 1
AIRE
Autosomal recessive congenital ichthyosis (ARCI)
ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, TGM1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
SACS
Axonal neuropathy with neuromyotonia
HINT1
Bardet-Biedl syndrome
ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, SDCCAG8, TTC8
Bare lymphocyte syndrome type II
CIITA, RFX5, RFXANK, RFXAP
Barth syndrome
TAFAZZIN
Bartter syndrome
BSND, KCNJ1, SLC12A1
Basal ganglia disease, biotin-thiamine-responsive
SLC19A3
Beta-hemoglobinopathies, includes sickle cell disease and beta-thalassemias
HBB
Beta-ketothiolase deficiency
ACAT1
Beta-mannosidosis
MANBA
Biotinidase deficiency, profound and partial
BTD
Bloom syndrome
BLM
Brittle cornea syndrome
PRDM5, ZNF469
Canavan disease
ASPA
Carbamoyl phosphate synthetase I deficiency
CPS1
Carnitine-acylcarnitine translocase deficiency
SLC25A20
Carnitine palmitoyltransferase I deficiency
CPT1A
Carnitine palmitoyltransferase II deficiency
CPT2
Carpenter syndrome
RAB23
Cartilage-hair hypoplasia
RMRP
Cerebellar hypoplasia, VLDLR-associated
VLDLR
Cerebral creatine deficiency syndromes
GAMT, GATM, SLC6A8
Cerebrotendinous xanthomatosis
CYP27A1
Chediak-Higashi syndrome
LYST
Choreacanthocytosis
VPS13A
Chronic granulomatous disease
CYBA, CYBB, NCF2, NCF4
Ciliopathies
CEP290, MKS1
Citrullinemia
ASS1, SLC25A13
Coats plus syndrome and dyskeratosis congenita, CTC1-related
CTC1
Cockayne syndrome
ERCC6, ERCC8
Coffin-Lowry syndrome
RPS6KA3
Cohen syndrome
VPS13B
Cold-induced sweating syndrome, includes Crisponi syndrome
CLCF1, CRLF1
Combined malonic and methylmalonic aciduria
ACSF3
Combined oxidative phosphorylation deficiency
GFM1, TSFM
Combined pituitary hormone deficiency
LHX3, PROP1
Congenital adrenal hyperplasia
CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, STAR
Congenital adrenal hypoplasia, X-linked
NR0B1
Congenital amegakaryocytic thrombocytopenia
MPL
Congenital arthrogryposis with anterior horn cell disease
GLE1
Congenital disorder of deglycosylation
NGLY1
Congenital disorders of glycosylation
ALG1, ALG6, MPI, PMM2
Congenital generalized lipodystrophy
AGPAT2, CAVIN1
Congenital hydrocephalus 1
CCDC88C
Congenital insensitivity to pain with anhidrosis
NTRK1
Congenital myasthenic syndrome
CHAT, CHRNE, COLQ, DOK7, GFPT1, RAPSN
Corneal dystrophy and perceptive deafness
SLC4A11
Costeff syndrome
OPA3
Cutis laxa
ATP6V0A2, ATP6V1E1, EFEMP2, LTBP4, PYCR1
Cystic fibrosis
CFTR
Cystinosis
CTNS
D-bifunctional protein deficiency
HSD17B4
Danon disease
LAMP2
Deafness and hearing loss, nonsyndromic
GJB2, LOXHD1, OTOF, POU3F4, SYNE4
Dent disease
CLCN5, OCRL
Developmental and epileptic encephalopathy
ARX, CAD, ITPA
Dihydrolipoamide dehydrogenase deficiency
DLD
Dihydropyrimidine dehydrogenase deficiency
DPYD
Distal spinal muscular atrophy
PLEKHG5
Donnai-Barrow syndrome
LRP2
Dystrophic epidermolysis bullosa
COL7A1
Dystrophinopathies, including Duchenne and Becker muscular dystrophy and X-linked cardiomyopathy
DMD
Ehlers Danlos syndrome, ADAMTS2-related
ADAMTS2
Ehlers–Danlos-like syndrome
TNXB
Ellis-van Creveld syndrome
EVC2
Emery-Dreifuss muscular dystrophy
EMD, FHL1
Ethylmalonic encephalopathy
ETHE1
Fabry disease
GLA
Factor IX deficiency (hemophilia B)
F9
Familial dysautonomia
ELP1
Familial hemophagocytic lymphohistiocytosis
PRF1, STX11, STXBP2, UNC13D
Familial hyperinsulinism
ABCC8
Familial Mediterranean fever
MEFV
Fanconi anemia
BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL
Fragile X syndrome
FMR1
Fraser syndrome
FRAS1, FREM2, GRIP1
Fucosidosis
FUCA1
Galactosemia
GALE, GALK1, GALT
Galactosialidosis
CTSA
Gaucher disease
GBA1
Glutaric acidemia type I
GCDH
Glutaric acidemia type II
ETFA, ETFB, ETFDH
Glutathione synthetase deficiency
GSS
Glycine encephalopathy
AMT, GLDC
Glycogen storage disease type I
G6PC1, SLC37A4
Glycogen storage disease type III
AGL
Glycogen storage disease type IV
GBE1
Glycogen storage disease type IX
PHKA1, PHKA2, PHKB, PHKG2
Glycogen storage disease type V
PYGM
Glycogen storage disease type VII
PFKM
GM1 gangliosidosis and mucopolysaccharidosis type IVB
GLB1
GRACILE syndrome
BCS1L
Gyrate atrophy of choroid and retina
OAT
Hepatic venoocclusive disease with immunodeficiency
SP110
Hereditary folate malabsorption
SLC46A1
Hereditary fructose Intolerance
ALDOB
Hereditary spastic paraplegia
CYP7B1, SPG11, SPG21, TECPR2
Hermansky-Pudlak syndrome
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
HMG-CoA lyase deficiency
HMGCL
Holocarboxylase synthetase deficiency
HLCS
Homocystinuria
CBS, MTRR
HSD10 disease
HSD17B10
Hyaline fibromatosis syndrome
ANTXR2
Hydrolethalus syndrome
HYLS1
Hyper IgM syndrome, X-linked
CD40LG
Hypohidrotic ectodermal dysplasia
EDA
Hypomyelination and congenital cataract
HYCC1
Hypophosphatasia
ALPL
Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome
CDCA7, DNMT3B, HELLS, ZBTB24
Immunodeficiency with hyper IgM syndrome
AICDA, CD40, UNG
Inclusion body myopathy 2
GNE
Intellectual developmental disorder, NONO-related
NONO
IPEX syndrome
FOXP3
Isovaleric acidemia
IVD
Joubert syndrome and related disorders, including Meckel-Gruber syndrome
AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP104, CPLANE1, INPP5E, KIF14, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237
Junctional epidermolysis bullosa
LAMA3, LAMB3, LAMC2
Juvenile hereditary hemochromatosis
HAMP, HJV
Juvenile retinoschisis, X-linked
RS1
Krabbe disease
GALC
L1 syndrome
L1CAM
Leber congenital amaurosis
AIPL1, LCA5, LRAT, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
Leigh syndrome
FBXL4, FOXRED1, LRPPRC, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, SURF1
Leukoencephalopathy with vanishing white matter
EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Limb-girdle muscular dystrophy
CAPN3, DYSF, FKRP, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TRAPPC11, TRIM32
Lipoprotein lipase deficiency, familial
LPL
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
HADHA
Lysinuric protein intolerance
SLC7A7
Lysosomal acid lipase deficiency
LIPA
Macular corneal dystrophy
CHST6
Maple syrup urine disease
BCKDHA, BCKDHB, DBT
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
ACADM
Megalencephalic leukoencephalopathy with subcortical cysts type 1
MLC1
Metachromatic leukodystrophy
ARSA, PSAP
Methylmalonic acidemia
MCEE, MMAA, MMAB, MMUT
Methylmalonic acidemia with homocystinuria
ABCD4, HCFC1, LMBRD1, MMACHC, MMADHC
Mevalonate kinase deficiency
MVK
Microcephaly, postnatal progressive, with seizures and brain atrophy
MED17
Mitochondrial complex deficiency
SCO2
Mitochondrial complex I deficiency
ACAD9
Mitochondrial complex V deficiency
TMEM70
Mitochondrial DNA depletion syndrome, MPV17-related
MPV17
Mitochondrial DNA depletion syndrome, TK2-related
TK2
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia
PUS1
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease
TYMP
Mitochondrial trifunctional protein deficiency
HADHB
Molybdenum cofactor deficiency
GPHN, MOCS1, MOCS2
Mucolipidosis III gamma
GNPTG
Mucolipidosis type II and III
GNPTAB
Mucolipidosis type IV
MCOLN1
Mucopolysaccharidosis type I
IDUA
Mucopolysaccharidosis type II
IDS
Mucopolysaccharidosis type III
GNS, HGSNAT, NAGLU, SGSH
Mucopolysaccharidosis type IVA
GALNS
Mucopolysaccharidosis type IX
HYAL1
Mucopolysaccharidosis type VI
ARSB
Mucopolysaccharidosis type VII
GUSB
Multiple pterygium syndrome
CHRNG
Multiple sulfatase deficiency
SUMF1
Muscular dystrophy, LAMA2-related
LAMA2
Myotonia congenita
CLCN1
Myotubular myopathy
MTM1
N-acetylglutamate synthetase deficiency
NAGS
Nemaline myopathy
NEB
Nephrogenic diabetes insipidus
AVPR2
Nephrotic syndrome
NPHS1, NPHS2
Neurodegeneration with brain iron accumulation disorder
ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, PLA2G6
Neuronal ceroid-lipofuscinosis
CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, KCTD7, MFSD8, PPT1, TPP1
Niemann-Pick disease type C
NPC1, NPC2
Niemann-Pick disease types A and B
SMPD1
Nijmegen breakage syndrome
NBN
Oculocutaneous albinism
OCA2, TYR
Omenn syndrome
DCLRE1C, RAG1, RAG2
Opitz G/BBB syndrome
MID1
Ornithine transcarbamylase deficiency
OTC
Ornithine translocase deficiency
SLC25A15
Osteogenesis imperfecta, autosomal recessive
BMP1, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, TMEM38B, WNT1
Osteopetrosis
OSTM1, TCIRG1, TNFSF11
Pantothenate kinase-associated neurodegeneration
PANK2
Pelizaeus-Merzbacher disease
PLP1
Pendred syndrome
SLC26A4
Peroxisomal acyl-CoA oxidase deficiency
ACOX1
Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU)
PAH
Phosphoglycerate dehydrogenase deficiency
PHGDH
Pitt-Hopkins-like syndrome 1
CNTNAP2
POLG-related disorders
POLG
Polycystic kidney disease, autosomal recessive
PKHD1
Polymicrogyria
ADGRG1
Pompe disease
GAA
Pontocerebellar hypoplasia
AMPD2, CHMP1A, CLP1, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VPS53, VRK1
Primary congenital glaucoma
CYP1B1
Primary hyperoxaluria
AGXT, GRHPR, HOGA1
Primary microcephaly
MCPH1
Progressive familial intrahepatic cholestasis
ABCB4, ABCB11, ATP8B1
Progressive pseudorheumatoid dysplasia
CCN6
Propionic acidemia
PCCA, PCCB
Pseudocholinesterase deficiency
BCHE
Pulmonary surfactant metabolism dysfunction
ABCA3
Pycnodysostosis
CTSK
Pyridoxal 5'-phosphate-dependent epilepsy
PNPO
Pyridoxine-dependent epilepsy
ALDH7A1
Pyruvate carboxylase deficiency
PC
Pyruvate dehydrogenase deficiency
PDHA1, PDHB, PDHX, PDP1
Renal tubular acidosis with deafness
ATP6V0A4, ATP6V1B1
Retinitis pigmentosa
CERKL, CNGA1, CNGB1, CWC27, DHDDS, EYS, FAM161A, IFT140, MAK, PRCD, RLBP1, RP2, RPGR
Rhizomelic chondrodysplasia punctata
AGPS, GNPAT, PEX7
Roberts syndrome
ESCO2
Sandhoff disease
HEXB
Schimke immunoosseous dysplasia
SMARCAL1
Schindler disease
NAGA
SELENON-related disorders
SELENON
Severe combined immunodeficiency (SCID)
AK2, CD3D, CD3E, CD3G, CD8A, CD247, CORO1A, DOCK8, FOXN1, IKBKB, IL2RA, IL7R, JAK3, LCK, LIG4, MALT1, MTHFD1, NHEJ1, PGM3, PNP, PRKDC, PTPRC, STK4, TTC7A, ZAP70
Severe combined Immunodeficiency (SCID), X-linked
IL2RG
Severe congenital neutropenia
HAX1, VPS45
Short-rib thoracic dysplasia
DYNC2H1
Short/branched chain acyl-CoA dehydrogenase deficiency
ACADSB
Sialic acid storage disorders
SLC17A5
Sialidosis
NEU1
Sjogren-Larsson syndrome
ALDH3A2
Smith-Lemli-Opitz syndrome
DHCR7
Spinal muscular atrophy
SMN1
Spinocerebellar ataxia 10
ANO10
Spondylothoracic dysostosis
MESP2
Stüve-Wiedemann syndrome
LIFR
Sulfate transporter-related osteochondrodysplasias, includes achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia
SLC26A2
Sulfite oxidase deficiency
SUOX
Systemic primary carnitine deficiency
SLC22A5
Tay-Sachs disease
HEXA
Tetrahydrobiopterin deficiency
PCBD1, PTS, QDPR
Trichohepatoenteric syndrome
SKIC2, SKIC3
Trimethylaminuria
FMO3
Triple A syndrome
AAAS
Tyrosine hydroxylase deficiency
TH
Tyrosinemia type I
FAH
Tyrosinemia type II
TAT
Tyrosinemia type III
HPD
Usher syndrome (hearing loss and retinitis pigmentosa)
ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
ACADVL
Vitamin D-dependent rickets
CYP27B1
Walker-Warburg syndrome and other FKTN related dystrophies
FKTN
Werner syndrome
WRN
Wilson disease
ATP7B
Wiskott-Aldrich syndrome
WAS
Xeroderma pigmentosum
DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Zellweger spectrum disorder/ peroxisome biogenesis disorder
PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26