Ordering Recommendation
Carrier screening or diagnostic testing for Tay-Sachs disease. For carrier screening in individuals of French-Canadian ancestry, consider ordering Tay-Sachs Disease (HEXA), 7 Variants (0051428).
Mnemonic
HEXA NGS
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender or pink (EDTA) or yellow (ACD Solution A or B)
Specimen Preparation
Transport 3 mL whole blood. (Min: 3 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush or swab, FFPE tissue.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Gene Tested: HEXA (NM_000520)
The pathogenic 7.6kb deletion specific to French Canadian populations is detected by this assay at reduced sensitivity.
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
N/A
CPT Codes
81406, 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3004487 | HEXA Specimen | 66746-9 |
3004488 | HEXA Interp | 38900-7 |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
- beta-hexosaminidase A
- GM2 gangliosidosis
- hexosaminidase A
- Tay-Sachs disease
Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication