Tay Sachs Special Test for B-1 Variant
| Sunquest Code: | MMMISC | ||
| Epic Code: | LAB4909 | Epic Name: | Send Outs Misc Tests |
| Synonyms: | Hexosaminidase A (MUGS) | ||
| Methodology: | Fluorometric manual method | ||
| Turnaround Time: | Specimens are sent to the reference laboratory Mon-Fri; results are reported within 30-45 days. | ||
| Special Instructions: | TEST NOT FOR ROUTINE TESTING. Reserved for carrier status determination on cases where the routine screening method demonstrated ambiguous result on the rare B-1 variant is suspected. Not valid in pregnant women. A signed copy of a genetic testing consent form should be obtained by the requesting facility and documented on the request form. | ||
| Compliance: | This test was developed and its performance characteristics determined by Laboratory Medicine and Pathology, Mayo Clinic. This test has not been cleared by the U.S. Food and Drug Administration. |
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| Associated Links: | |||
Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 2 mL |
| Minimum\Peds Volume: | 0.5 mL |
| Container: | Red (no gel) (Red or gold (gel)) |
Processing and Shipping
| Specimen Processing: | Centrifuge and aliquot 1 mL, 0.15 mL minimum. Store in freezer. |
| Shipping Instructions: | Ship on dry ice. |
| Stability: | 5 days refrigerated; 1 year frozen. |
| Test Performed at or Referral Lab | Lab Sendouts (Mayo) |
| Referral Lab number: | MUGS |
Interpretive
| Reference Range: |
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| Use: | This test should be ordered when the patient exhibits Tay-Sachs symptoms, but has tested as normal, ambiguous or carrier by either NAGS/8774 Hexosaminidase A and Total Hexosaminidase, Serum or NAGW/8775 Hexosaminidase A and Total Hexosaminidase, Leukocytes. |
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