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High Frequency Panel Disorders

Inheritest® High Frequency Panel
Disorders
Genes
3-Methylcrotonyl-CoA carboxylase deficiency
MCCC2
Achromatopsia
CNGB3
Adrenoleukodystrophy, X-linked
ABCD1
Aicardi-Goutières syndrome
RNASEH2B
Alpha-thalassemia
HBA1, HBA2
Argininosuccinic aciduria
ASL
Aspartylglucosaminuria
AGA
Atransferrinemia
TF
Autoimmune polyglandular syndrome type 1
AIRE
Bardet-Biedl syndrome
BBS1, BBS2
Basal ganglia disease, biotin-thiamine-responsive
SLC19A3
Beta-hemoglobinopathies, includes sickle cell disease and beta-thalassemias
HBB
Beta-ketothiolase deficiency
ACAT1
Biotinidase deficiency, profound and partial
BTD
Bloom syndrome
BLM
Canavan disease
ASPA
Carnitine palmitoyltransferase II deficiency
CPT2
Cerebral creatine deficiency syndromes
SLC6A8
Cerebrotendinous xanthomatosis
CYP27A1
Ciliopathies
CEP290
Congenital adrenal hyperplasia
CYP11A1, CYP21A2
Congenital adrenal hypoplasia, X-linked
NR0B1
Congenital disorders of glycosylation
PMM2
Congenital hydrocephalus 1
CCDC88C
Congenital myasthenic syndrome
CHRNE
Cystic fibrosis
CFTR
Deafness and hearing loss, nonsyndromic
GJB2
Developmental and epileptic encephalopathy
ARX
Dihydrolipoamide dehydrogenase deficiency
DLD
Donnai-Barrow syndrome
LRP2
Dystrophic epidermolysis bullosa
COL7A1
Dystrophinopathies, including Duchenne and Becker muscular dystrophy and X-linked cardiomyopathy
DMD
Ehlers–Danlos-like syndrome
TNXB
Ellis-van Creveld syndrome
EVC2
Fabry disease
GLA
Factor IX deficiency (hemophilia B)
F9
Familial dysautonomia
ELP1
Familial hemophagocytic lymphohistiocytosis
PRF1
Familial hyperinsulinism
ABCC8
Fanconi anemia
FANCC
Fragile X syndrome
FMR1
Fraser syndrome
GRIP1
Galactosemia
GALT
Gaucher disease
GBA1
Glycogen storage disease type I
G6PC1, SLC37A4
Glycogen storage disease type IV
GBE1
Hereditary fructose Intolerance
ALDOB
Hermansky-Pudlak syndrome
HPS1, HPS3
Homocystinuria
CBS
Hypophosphatasia
ALPL
Joubert syndrome and related disorders, including Meckel-Gruber syndrome
AHI1, CC2D2A, TMEM216
Juvenile retinoschisis, X-linked
RS1
L1 syndrome
L1CAM
Limb-girdle muscular dystrophy
FKRP
Maple syrup urine disease
BCKDHB
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
ACADM
Megalencephalic leukoencephalopathy with subcortical cysts type 1
MLC1
Metachromatic leukodystrophy
ARSA
Methylmalonic acidemia
MMUT
Methylmalonic acidemia with homocystinuria
MMACHC
Mevalonate kinase deficiency
MVK
Mitochondrial complex deficiency
SCO2
Mucolipidosis type II and III
GNPTAB
Mucolipidosis type IV
MCOLN1
Mucopolysaccharidosis type I
IDUA
Myotonia congenita
CLCN1
Nemaline myopathy
NEB
Nephrotic syndrome
NPHS1
Niemann-Pick disease types A and B
SMPD1
Oculocutaneous albinism
OCA2, TYR
Opitz G/BBB syndrome
MID1
Ornithine transcarbamylase deficiency
OTC
Pelizaeus-Merzbacher disease
PLP1
Pendred syndrome
SLC26A4
Phenylalanine hydroxylase deficiency, includes phenylketonuria (PKU)
PAH
POLG-related disorders
POLG
Polycystic kidney disease, autosomal recessive
PKHD1
Pompe disease
GAA
Pontocerebellar hypoplasia
RARS2
Primary hyperoxaluria
AGXT
Primary microcephaly
MCPH1
Pulmonary surfactant metabolism dysfunction
ABCA3
Retinitis pigmentosa
DHDDS, RPGR
Schindler disease
NAGA
Short-rib thoracic dysplasia
DYNC2H1
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
Tay-Sachs disease
HEXA
Trimethylaminuria
FMO3
Tyrosinemia type I
FAH
Usher syndrome (hearing loss and retinitis pigmentosa)
CLRN1, PCDH15, USH2A
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
ERCC2, XPC