Tay-Sachs disease, leukocytes

Alphabetical Test listing

Tay-Sachs disease, leukocytes-13561

Test name:

Test number:

13561

Excellian order number:

LAB13561

Abbreviation:

TAYSACHSL

Alternate names:

Beta-hexosaminidase A and total Beta-hexosaminidase from leukocytes
GM2
Gangliosidosis

Useful for:

Identification of Tay-Sachs disease gene carriers and affected individuals.

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:

ACD whole blood

Collection container:

Yellow ACD (A or B)

Volume:

10 mL

Minimum volume:

5 mL

Collection instructions:

Immediatley following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting

Processing instructions:

Refrigerate after collection; do not allow sample to freeze.
Sample must arrive at the testing laboratory within 4 days of collection.

Transport container:

Yellow ACD (A or B) tube(s)

Required forms/information:

Tay-Sachs Disease Screening Questionnaire

Transport and stability:

Time sensitive. Specimen must arrive at the testing laboratory within 4 days of collection.

Refrigerated - 4 days

Frozen - NO

Reason for rejection:

Quantity not sufficient for analysis
Frozen specimen
Specimen not received within 4 days of collection
Incorrect specimen collection tube
Gross hemolysis
Unable to isolate viable white blood cells

Performing lab:

LabCorp RTP (511246): R-LC

Days set up:

3x / wk

TAT:

4 days

Method:

Determination of enzymatic activity using heat inactivation

Reference ranges:

An interpretive report will be provided

CPT codes:

83080

LOINC code:

Result UNLOINC

Date created:

04/11/2019

Revised date:

04/11/2022

Review date:

04/11/2022