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

3 weeks

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

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

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