Ashkenazi Jewish Carrier Test Panel

Test Description:

The Ashkenazi Jewish Panel tests for mutations associated with 36 autosomal recessive diseases that are found at an increased frequency in the Ashkenazi Jewish population:

Alport syndrome (autosomal recessive)
Arthrogryposis, mental retardation, and seizures
Bardet-Biedl syndrome (BBS-2)
Bloom syndrome
Canavan disease
Carnitine palmitoyltransferase II deficiency
Congenital amegakaryocytic thrombocytopenia
Congenital disorder of glycosylation Ia
Cystic fibrosis
Dyskeratosis congenita (autosomal recessive)
Ehlers-Danlos Type VIIC
Familial dysautonomia
Familial hyperinsulinism
Fanconi anemia group C
Gaucher disease
Glycogen storage disease type IA
Joubert syndrome 2
Lipoamidine dehydrogenase deficiency (E3)
Maple syrup urine disease
Mucolipidosis IV
Multiple sulphatase deficiency
Nemaline myopathy
Niemann-Pick disease, types A and B
Polycystic kidney disease (autosomal recessive)
Retinitis pigmentosa 59
Smith-Lemli-Optiz syndrome
Tay-Sachs disease
Tyrosinemia type I
Usher syndrome type 1F
Usher syndrome type 3A
Walker-Warburg syndrome
Zellweger syndrome

Testing is performed by mutation genotyping for each of these disorders, as well as by enzyme analysis for Tay-Sachs disease. Because of the serious and life-threatening nature of several of these conditions and the lack of available treatment, prevention is the best strategy for combating these diseases. Carrier screening and appropriate genetic counseling can be used to dramatically reduce the incidence of these disorders in the Ashkenazi Jewish population.

For Tay-Sachs disease, where carrier screening has been used since the 1970s, the disease incidence has decreased by 90%. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists currently recommend carrier screening for Tay-Sachs disease, Canavan disease, familial dysautonomia, and cystic fibrosis in the Ashkenazi Jewish population. Furthermore, the American College of Medical Genetics recommends that carrier screening for Bloom syndrome, Fanconi anemia, Gaucher disease, mucolipidosis type IV, and Niemann-Pick disease be offered. For more detailed test information, please refer to each individual test.

Specimen Requirements

Three 5-10 ml tubes of anticoagulated blood in EDTA (lavender top) and one 5-10 ml tube of anticoabulated blood in ACD (yellow top). Alternatively, five 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) are acceptable.

Turnaround Time:

10-14 days

CPT Codes:

81209, 81200, 81220, 81260, 81242, 81251, 81250, 81400×4, 81401×2, 81205, 81290, 81330, 81255

Forms and Brochures

Carrier Screening Requisition and Consent[PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure[PDF]