HEXOSAMINIDASE A & B
Tay Sachs Disease, Tay Sachs Carrier Testing
BIOCHEMICAL ANALYSIS
Also see: Ashkenazi Genetic Disease Screen - DNA Analysis

Description:

The deficiency of Hexosaminidase A results in Tay-Sachs disease and the deficiency of both Hexosaminidase A & B is Sandhoff's disease. This protocol measures the activity of both hexosaminidase A and B. This protocol utilizes the 4-methylumbelliferyl-N-acetamido-b-D-glucoside substrate.The 4-methylumbelliferone product is quantified fluorimetrically. This procedure is also utilized to determine Tay Sachs carrier status. For Ashkenazi Jewish individuals, DNA analysis for Tay Sachs is also available (see Ashkenazi Genetic Disease Screen).

Specimen Requirements:

This test is performed on serum only. Requests for testing on white blood cells or cultured cells should be referred to other laboratories. NOTE: This serum test cannot be performed on women during pregnancy. Send 3-5 ml of serum. Ship on dry ice in an insulated container by overnight carrier.

Normal Range:

Disease: 0-8% A
Carrier: 9-44% A
Indeterminate: 45-51% A
Non-carrier: 52-70% A

Turnaround Time:

2 weeks

CPT Codes and Prices:

83080

Shipping Information

Forms:

>> Biochemical Requisition
>> Tay Sachs Questionnaire

Test Codes:

Tay Sachs Disease: 4569
Tay Sachs Carrier Testing: 4617