Tay-Sachs Disease (HEXA), 7 Variants
Also known as: HEXA
Use
Tay-Sachs disease is a lysosomal storage disorder that leads to severe neurological damage. This test is designed for carrier screening or diagnostic testing for Tay-Sachs disease in individuals of Ashkenazi Jewish or French-Canadian descent. Identifying carriers of the HEXA gene variants can inform family planning decisions and provide early diagnosis in symptomatic individuals.
Special Instructions
Counseling and informed consent are recommended, particularly for patients in New York where consent is required for submission. Patients should refer to the informed consent forms linked on the page.
Limitations
This test detects specific HEXA variants, including four pathogenic variants and two pseudodeficiency alleles. Variants other than those specified will not be detected, and diagnostic errors can arise due to rare sequence variations. The test has a clinical sensitivity of 94% for Ashkenazi Jewish individuals and 59% for other ethnic groups.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 38900-7
- 51773-0
- 31208-2
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).
Storage Instructions
Refrigerated transport is preferred. Room temperature stability for 3 days, refrigerated for 1 week, and frozen for 1 month.
Causes for Rejection
Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |