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Hexosaminidase A and Total, Serum
Test Code34841
CPT Codes
83080 (x2)
Preferred Specimen
1 mL serum
Minimum Volume
0.5 mL
Instructions
New York State clients: Informed consent is required. Please document on the test requisition or electronic order that a copy is on file.
If females wish screening for carrier status of hexosaminidase A deficiency, they must be tested prior to pregnancy. If the female is pregnant, we strongly suggest that her mate be tested for carrier status. Positive (or ambiguous) findings in the mate indicate a second order test on the female with leukocyte preparations. Refer to (Mayo code NAGR) Hexosaminidase A and Total, Leukocytes/Molecular Reflex or 34842 (Mayo code NAGW) Hexosaminidase A and Total Hexosaminidase, Leukocytes for carrier detection and diagnosis of Tay-Sachs disease.
Note: Serum assay results are often ambiguous on pregnant females and will not be run.
If females wish screening for carrier status of hexosaminidase A deficiency, they must be tested prior to pregnancy. If the female is pregnant, we strongly suggest that her mate be tested for carrier status. Positive (or ambiguous) findings in the mate indicate a second order test on the female with leukocyte preparations. Refer to (Mayo code NAGR) Hexosaminidase A and Total, Leukocytes/Molecular Reflex or 34842 (Mayo code NAGW) Hexosaminidase A and Total Hexosaminidase, Leukocytes for carrier detection and diagnosis of Tay-Sachs disease.
Note: Serum assay results are often ambiguous on pregnant females and will not be run.
Transport Temperature
Frozen
Specimen Stability
Room temperature: Unacceptable
Refrigerated: 7 days
Frozen: 30 days
Refrigerated: 7 days
Frozen: 30 days
Methodology
Heat Inactivation • Fluorometric • Automated
Setup Schedule
Set up: Varies; Report available: 8-15 days
Report Available
15 Days
Reference Range
Hexosaminidase Total | |
≤15 years | ≥20 nmol/min/mL |
≥16 years | 10.4-23.8 nmol/min/mL |
Hexosaminidase Percent A | |
≤15 years | 20-90% |
≥16 years | 56-80% |