Tay Sachs Disease Enzyme Analysis (Hexosaminidase-A)
| Sunquest Code: | XMISC | ||
| Epic Code: | LAB4909 | Epic Name: | Hexosaminidase A |
| Synonyms: | Hexosaminidase A; Hexos Testing | ||
| Methodology: | Enzyme analysis | ||
| 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. | ||
Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 10 mL |
| Container: | Yellow (ACD, Solution A) tube available from laboratory (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 room temperature. |
| Shipping Instructions: | Ship at room temperature. Sample must be received at Genzyme within 4 days of collection. |
| Test Performed at or Referral Lab | Lab Sendouts (Genzyme (Integrated Genetics), Massachusetts) |
| Referral Lab number: | 350 |
Interpretive
| Reference Range: |
By report.
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