Tay Sachs Disease Enzyme Analysis (Hexosaminidase-A)
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order Name: | Laboratory Miscellaneous Order |
| Synonyms: | Hexosaminidase A; Hexos Testing | ||
| Methodology: | Enzyme analysis | ||
| CPT Codes: | 83080 x1 | ||
| Test Includes: | Identification of Tay-Sachs disease gene carriers and affected individuals | ||
| Turnaround Time: | Specimens are sent to the reference laboratory Mon-Fri before 1300; results are reported within 8-14 days. | ||
| Special Instructions: | A completed patient questionnaire should accompany all samples. | ||
| Associated Links: | https://womenshealth.labcorp.com/tests/related-documents/L885 |
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Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 10 mL |
| Minimum\Peds Volume: | 5 mL |
| Container: | Yellow (ACD, Solution A) tube available from laboratory Alternate Containers: Purple (EDTA) |
| Causes for Rejection: | Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen. |
Processing and Shipping
| Specimen Processing: | 10 mL whole blood; do not process. Store at refrigerated temperature. |
| Shipping Instructions: | Ship refrigerated. Sample must be received at Integrated Genetics within 4 days of collection. |
| Test Performed at or Referral Lab | Lab Sendouts (LabCorp) |
| Referral Lab number: | 511246 |
Interpretive
| Reference Range: |
By report.
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| 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. |
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