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Inheritest 100 PLUS Panel Disorders

Inheritest® 100 PLUS Panel
Disorders
Genes
Abetalipoproteinemia
MTTP
Adenosine deaminase deficiency
ADA
Alpha-mannosidosis
MAN2B1
Alpha-thalassemia
HBA1, HBA2
Alport syndrome
COL4A3
Andermann syndrome
SLC12A6
Argininosuccinic aciduria
ASL
Arthrogryposis, mental retardation, and seizures (AMRS)
SLC35A3
Aspartylglucosaminuria
AGA
Ataxia-telangiectasia
ATM
Ataxia with vitamin E deficiency
TTPA
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
SACS
Bardet-Biedl syndrome
BBS1, BBS2, BBS10
Beta-hemoglobinopathies, includes sickle cell disease and beta-thalassemias
HBB
Beta-ketothiolase deficiency
ACAT1
Beta-mannosidosis
MANBA
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
Citrullinemia
ASS1
Cohen syndrome
VPS13B
Congenital amegakaryocytic thrombocytopenia
MPL
Congenital disorders of glycosylation
PMM2
Cystic fibrosis
CFTR
Cystinosis
CTNS
D-bifunctional protein deficiency
HSD17B4
Dihydrolipoamide dehydrogenase deficiency
DLD
Dihydropyrimidine dehydrogenase deficiency
DPYD
Dystrophinopathies, including Duchenne and Becker muscular dystrophy and X-linked cardiomyopathy
DMD
Ehlers Danlos syndrome, ADAMTS2-related
ADAMTS2
Ethylmalonic encephalopathy
ETHE1
Familial dysautonomia
ELP1
Familial hyperinsulinism
ABCC8
Familial Mediterranean fever
MEFV
Fanconi anemia
FANCC
Fragile X syndrome
FMR1
Fucosidosis
FUCA1
Galactosemia
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
GM1 gangliosidosis and mucopolysaccharidosis type IVB
GLB1
GRACILE syndrome
BCS1L
Hereditary fructose Intolerance
ALDOB
HMG-CoA lyase deficiency
HMGCL
Holocarboxylase synthetase deficiency
HLCS
Homocystinuria
CBS
Hypophosphatasia
ALPL
Joubert syndrome and related disorders, including Meckel-Gruber syndrome
TMEM216
Junctional epidermolysis bullosa
LAMA3, LAMB3, LAMC2
Krabbe disease
GALC
Leigh syndrome
FOXRED1, LRPPRC, NDUFAF2, NDUFS4, NDUFS7, NDUFV1, SURF1
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
HADHA
Maple syrup urine disease
BCKDHA, BCKDHB
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
ACADM
Metachromatic leukodystrophy
ARSA
Methylmalonic acidemia
MMAA, MMAB, MMUT
Methylmalonic acidemia with homocystinuria
MMACHC
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
Nemaline myopathy
NEB
Nephrotic syndrome
NPHS1, NPHS2
Neuronal ceroid-lipofuscinosis
CLN3, CLN5, CLN8, PPT1, TPP1
Niemann-Pick disease type C
NPC1, NPC2
Niemann-Pick disease types A and B
SMPD1
Nijmegen breakage syndrome
NBN
Ornithine transcarbamylase deficiency
OTC
Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU)
PAH
Phosphoglycerate dehydrogenase deficiency
PHGDH
Polycystic kidney disease, autosomal recessive
PKHD1
Pompe disease
GAA
Primary hyperoxaluria
AGXT, GRHPR
Propionic acidemia
PCCA, PCCB
Pyruvate dehydrogenase deficiency
PDHA1
Retinitis pigmentosa
DHDDS
Rhizomelic chondrodysplasia punctata
PEX7
Sandhoff disease
HEXB
Severe combined Immunodeficiency (SCID), X-linked
IL2RG
Sialic acid storage disorders
SLC17A5
Sialidosis
NEU1
Sjogren-Larsson syndrome
ALDH3A2
Smith-Lemli-Opitz syndrome
DHCR7
Spinal muscular atrophy
SMN1
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
Tyrosinemia type I
FAH
Usher syndrome (hearing loss and retinitis pigmentosa)
CLRN1, PCDH15
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
ACADVL
Walker-Warburg syndrome and other FKTN related dystrophies
FKTN
Wilson disease
ATP7B
Xeroderma pigmentosum
ERCC5, XPA, XPC
Zellweger spectrum disorder/ peroxisome biogenesis disorder
PEX1, PEX2, PEX6, PEX10, PEX12, PEX26