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Tay-Sachs Disease, Biochemical, Serum

Test ID: 

706372

CPT code:

83080

Synonyms:

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

Clinical Use:

Determine Tay-Sachs carrier and affected status. This serum assay should not be performed on women who are pregnant or who are taking oral contraceptives. Identification of Sandhoff carrier and affected status. May be used in the diagnosis of I-cell disease

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.
Contraindications
This assay should not be performed on women who are pregnant or who are taking oral contraceptives.

Specimen Type:

Serum, frozen

Requested Volume: 

3 mL

Minimum Volume: 

1 mL

Container Type: 

Red-top tube

Collection:

Separate serum from cells within 30 minutes of collection. Transfer specimen to a plastic transport tube before freezing. To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested.

Storage Instructions:

Freeze

Stability Requirements:

Temperature

Period

Frozen

1 month

Rejection Criteria

Quantity not sufficient for analysis; thawed specimen

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