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

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)

Familial dysautonomia

ELP1

Familial hemophagocytic lymphohistiocytosis

PRF1

Familial hyperinsulinism

ABCC8

FANCC

FMR1

GRIP1

GALT

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

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High Frequency Panel Disorders