Hexosaminidase A and Total, Leukocytes/Molecular Reflex
Abbrev Code: | MMMISC | ||
Order Code: | LAB4909 | Order Name: | Hexo A Total Leuk Molec Reflex |
Synonyms: | Beta-N-Acetylglucosaminidase; Sandhoff Disease Carrier Screening; Tay Sachs Disease | ||
Methodology: | NAGR: Heat inactivation, fluorometric, semiautomated | ||
CPT Codes: | 83080 x2, 83080 x2, 81406 x1, 81479 x1 | ||
Turnaround Time: | Specimens are sent to reference laboratory Mon-Thur only and not the day before a holiday; results are reported within 4-8 days. | ||
Special Instructions: | A signed copy of a genetic consent form should be in the patient's chart. See Associated Links. | ||
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: | Whole Blood |
Optimal Volume: | 6 mL |
Minimum\Peds Volume: | 5 mL |
Container: | Yellow (ACD, Solution A) tube available from laboratory |
Processing and Shipping
Specimen Processing: | Whole blood. Do not centrifuge. Ship within 24 hours of collection in the original container. |
Shipping Instructions: | Ship same day at refrigerated temperature; do not freeze. Must arrive Mon-Fri only. Specimens must arrive at the reference laboratory within 96 hours after collection. |
Stability: | Ship same day in original container. |
Test Performed at or Referral Lab | Lab Sendouts (Mayo) |
Referral Lab number: | NAGR |
Interpretive
Reference Range: |
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Use: |
Hex A usually makes up >62% of the total hexosaminidase activity in leukocytes (normal = 63%-75% Hex A). The key factor for determining whether an individual is a carrier of, or affected with, Tay-Sachs disease is the percent Hex A in leukocytes:
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