Tay-Sachs Disease, Biochemical, Leukocytes

Test ID: 

706371

CPT code:

83080

Synonyms:

Beta-Hexosaminidase A and Total Beta-Hexosaminidase From Leukocytes
GM2 Gangliosidosis

Clinical Use:

Identification of Tay-Sachs disease gene carriers and affected individuals

Test Information:

Limitations
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.

Specimen Type:

Whole blood

Requested Volume: 

10 mL

Minimum Volume: 

5. mL

Container Type: 

Yellow-top (ACD) tube

Collection:

Refrigerate after collection. Transport to the testing lab using cool pack. Do not allow sample to freeze. Sample must arrive in the laboratory within four days of collection.

Storage Instructions:

Refrigerate.

Stability Requirements:

Expected Turnaround Time:

1 to 2 Days

Rejection Criteria

Quantity not sufficient for analysis; frozen specimen; specimen not received within fours days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate viable white blood cells