Accessibility
Accessibility

Inheritest 300 PLUS Panel Disorders

Inheritest® 300 PLUS Panel
Disorders
Genes
3-Methylcrotonyl-CoA carboxylase deficiency
MCCC1, MCCC2
Abetalipoproteinemia
MTTP
Achromatopsia
CNGB3
Adenosine deaminase deficiency
ADA
Adrenoleukodystrophy, X-linked
ABCD1
Aicardi-Goutières syndrome
RNASEH2B
Alpha-mannosidosis
MAN2B1
Alpha-thalassemia
HBA1, HBA2
Alport syndrome
COL4A3, COL4A4, COL4A5
Alström syndrome
ALMS1
Andermann syndrome
SLC12A6
Argininosuccinic aciduria
ASL
Arthrogryposis, mental retardation, and seizures (AMRS)
SLC35A3
Aspartylglucosaminuria
AGA
Ataxia-telangiectasia
ATM
Ataxia with vitamin E deficiency
TTPA
Atransferrinemia
TF
Autoimmune polyglandular syndrome type 1
AIRE
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
SACS
Bardet-Biedl syndrome
ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, SDCCAG8, TTC8
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
Canavan disease
ASPA
Carbamoyl phosphate synthetase I deficiency
CPS1
Carnitine-acylcarnitine translocase deficiency
SLC25A20
Carnitine palmitoyltransferase II deficiency
CPT2
Cartilage-hair hypoplasia
RMRP
Cerebral creatine deficiency syndromes
GAMT, GATM, SLC6A8
Cerebrotendinous xanthomatosis
CYP27A1
Ciliopathies
CEP290, MKS1
Citrullinemia
ASS1, SLC25A13
Cohen syndrome
VPS13B
Congenital adrenal hyperplasia
CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, STAR
Congenital adrenal hypoplasia, X-linked
NR0B1
Congenital amegakaryocytic thrombocytopenia
MPL
Congenital disorders of glycosylation
ALG1, ALG6, MPI, PMM2
Congenital hydrocephalus 1
CCDC88C
Congenital myasthenic syndrome
CHRNE
Cystic fibrosis
CFTR
Cystinosis
CTNS
D-bifunctional protein deficiency
HSD17B4
Deafness and hearing loss, nonsyndromic
GJB2, LOXHD1, OTOF, POU3F4, SYNE4
Developmental and epileptic encephalopathy
ARX
Dihydrolipoamide dehydrogenase deficiency
DLD
Dihydropyrimidine dehydrogenase deficiency
DPYD
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
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
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
GM1 gangliosidosis and mucopolysaccharidosis type IVB
GLB1
GRACILE syndrome
BCS1L
Hereditary fructose Intolerance
ALDOB
Hermansky-Pudlak syndrome
HPS1, HPS3
HMG-CoA lyase deficiency
HMGCL
Holocarboxylase synthetase deficiency
HLCS
Homocystinuria
CBS
Hydrolethalus syndrome
HYLS1
Hypophosphatasia
ALPL
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 retinoschisis, X-linked
RS1
Krabbe disease
GALC
L1 syndrome
L1CAM
Leigh syndrome
FBXL4, FOXRED1, LRPPRC, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, SURF1
Limb-girdle muscular dystrophy
CAPN3, DYSF, FKRP, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TRAPPC11, TRIM32
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
HADHA
Lysosomal acid lipase deficiency
LIPA
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
Mitochondrial complex deficiency
SCO2
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 VI
ARSB
Mucopolysaccharidosis type VII
GUSB
Multiple sulfatase deficiency
SUMF1
Myotonia congenita
CLCN1
Nemaline myopathy
NEB
Nephrotic syndrome
NPHS1, NPHS2
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
Pelizaeus-Merzbacher disease
PLP1
Pendred syndrome
SLC26A4
Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU)
PAH
Phosphoglycerate dehydrogenase deficiency
PHGDH
POLG-related disorders
POLG
Polycystic kidney disease, autosomal recessive
PKHD1
Pompe disease
GAA
Pontocerebellar hypoplasia
RARS2
Primary hyperoxaluria
AGXT, GRHPR, HOGA1
Primary microcephaly
MCPH1
Propionic acidemia
PCCA, PCCB
Pulmonary surfactant metabolism dysfunction
ABCA3
Pyruvate dehydrogenase deficiency
PDHA1, PDHB, PDHX, PDP1
Retinitis pigmentosa
CERKL, CNGA1, CNGB1, CWC27, DHDDS, EYS, FAM161A, IFT140, MAK, PRCD, RLBP1, RP2, RPGR
Rhizomelic chondrodysplasia punctata
AGPS, GNPAT, PEX7
Sandhoff disease
HEXB
Schindler disease
NAGA
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
Short-rib thoracic dysplasia
DYNC2H1
Sialic acid storage disorders
SLC17A5
Sialidosis
NEU1
Sjogren-Larsson syndrome
ALDH3A2
Smith-Lemli-Opitz syndrome
DHCR7
Spinal muscular atrophy
SMN1
Spinocerebellar ataxia 10
ANO10
Sulfate transporter-related osteochondrodysplasias, includes achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia
SLC26A2
Systemic primary carnitine deficiency
SLC22A5
Tay-Sachs disease
HEXA
Trimethylaminuria
FMO3
Tyrosinemia type I
FAH
Usher syndrome (hearing loss and retinitis pigmentosa)
ADGRV1, CDH23, CIB2, CLRN1, 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
Wilson disease
ATP7B
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