Identification of carriers for eighteen genetic diseases with elevated prevalence among people of Jewish heritage. See Test Includes for individual components of this profile.
Immediately following collection, mix each tube by inverting 8 - 10 times to prevent clotting
Lavender (EDTA), 10mL and Yellow ACD (A or B) tubes
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.
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.