Test name:  

Inheritest High Frequency Panel

Test number:  

15265

Excellian order number:  

LAB15265

Abbreviation:  

INH-HF

Alternate names:  

Ashkenazi Jewish
Expanded carrier testing
Pan-ethnic carrier screening

Tests included:  

alpha-thalassemia (HBA1, HBA2)
Bardet-Biedl syndrome (BSS1, BSS2)
Beta-hemoglobinopathies
Sickle cell disease
beta-thalassemias (HBB)
Bloom syndrome (BLM)
Canavan disease (ASPA)
Carnitine palmitoyltransferase II deficiency (CPT2)
cystic fibrosis (CTFR)
Dihydrolipoamide dehydrogenase deficiency (DLD)
Ehlers-Danlos-like syndrome (TXNB)
Familial dysautonomia (ELP1)
Familial hyperinsulinism (ABCCB)
Fanconi anemia (FANCC)
Fragile X syndrome (FMR1)
Galactosemia (GALT)
Gaucher disease (GMA)
Glycogen storage disease type 1 (G6PC1), SCL37A4)
Joubert syndrome
Meckel-Gruber syndrome (AHI1, CC2DA, TME216)
Maple syrup urine disease (MSUD)
Metachromatic leukodystrophy (ARSA)
Mucolipidosis type IV (MCOLN1)
Nemaline myopathy (NEB)
Niemann-Pick disease types A and B (SMPD1)
Phenylalanine hydroxylase deficiency
Phenylketonuria (PKU PAH)
Polycystic kidney disease, autosomal recessive (PKHD1)
Retinitis pigmentosa (DHDDS, RPGR)
Smith-Lemli-Opitz syndrome (DHCR7)
Spinal muscular atrophy (SMN1)
Tay-Sachs disease (HEXA)
Tyrosinemia type I (FAH)
Usher syndrome (hearing loss an dretinitis pigmentosa) (CLRN1, PCDH15, USH2A)
Walker-Warburg syndrome and other FKTN related dystrophies (FKTN)
Wilson disease (ATP7B)

Useful for:  

This test is used for pan-ethnic carrier screening and includes 110 of the genes included in the American College of Medical Genetics (ACMG) Tier 3 category.

Limitations:  

Males are not tested for x-linked disorders, including fragile X syndrome.