Identification of carriers for eighteen genetic diseases with elevated prevalence among people of Jewish heritage. See Test Includes for individual components of this profile.
Submit specimen in original collection containers
Do not spin
Lavender (EDTA), 10mL and Yellow ACD (A or B) tubes
Specimens must arrive in the lab within four days of collection.
Refrigerated (Yellow ACD (A or B) tube only) - 4 days
Ambient (Lavender (EDTA), 10mL tube only)
Frozen - NO
Polymerase chain reaction (PCR), oligonucleotide ligation assay, and primer extension with flow-sorted bead array analysis
Determination of β-hexosaminidase A and B activity using heat inactivation
This test is not appropriate for non-Ashkenazi Jewish individuals. This assay may not detect patients or carriers of rare variants of Tay-Sachs disease, such as the B-1 variant or the activator protein deficiency.