TSD (Tay-Sachs disease) testing.
To assist in diagnosing Tay-Sachs and Sandhoff disease by identifying a hexosaminidase enzyme deficiency.
There are no food, fluid, activity, or medication restrictions unless by medical direction.
Method: Fluorometry for enzyme assay, polymerase chain reaction (PCR)/primer extension for molecular assay.
|Plasma Enzyme Assay Conventional Units||Plasma Enzyme Assay SI Units (Conventional Units × 0.0167)|
|Hexosaminidase Total||589–955 nmol/hr/mL||9.83–15.98 nmol/hr/mL|
|Hexosaminidase A||55%–76% of total hexosaminidase||55%–76% of total hexosaminidase|
|Whole blood leukocyte assay: greater than 62%||Molecular assay: Negative for HEXA gene mutations||Molecular assay: Negative for HEXB variants|
|Methods vary, reference ranges vary; the reference range and interpretive summary provided in the laboratory report should be used to properly evaluate results. Carrier values are approximately half of the expected normal values.|
Critical Findings and Potential Interventions
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Van Leeuwen, Anne M., and Mickey Lynn. Bladh. "Hexosaminidase Testing." Davis's Lab & Diagnostic Tests, 7th ed., F.A. Davis Company, 2017. Nursing Central, nursing.unboundmedicine.com/nursingcentral/view/Davis-Lab-and-Diagnostic-Tests/425267/5.1/Hexosaminidase_Testing.
Van Leeuwen AMA, Bladh MLM. Hexosaminidase Testing. Davis's Lab & Diagnostic Tests. F.A. Davis Company; 2017. https://nursing.unboundmedicine.com/nursingcentral/view/Davis-Lab-and-Diagnostic-Tests/425267/5.1/Hexosaminidase_Testing. Accessed June 8, 2023.
Van Leeuwen, A. M., & Bladh, M. L. (2017). Hexosaminidase Testing. In Davis's Lab & Diagnostic Tests (7th ed.). F.A. Davis Company. https://nursing.unboundmedicine.com/nursingcentral/view/Davis-Lab-and-Diagnostic-Tests/425267/5.1/Hexosaminidase_Testing
Van Leeuwen AMA, Bladh MLM. Hexosaminidase Testing [Internet]. In: Davis's Lab & Diagnostic Tests. F.A. Davis Company; 2017. [cited 2023 June 08]. Available from: https://nursing.unboundmedicine.com/nursingcentral/view/Davis-Lab-and-Diagnostic-Tests/425267/5.1/Hexosaminidase_Testing.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Hexosaminidase Testing ID - 425267 A1 - Bladh,Mickey Lynn, AU - Van Leeuwen,Anne M, BT - Davis's Laboratory & Diagnostic Tests UR - https://nursing.unboundmedicine.com/nursingcentral/view/Davis-Lab-and-Diagnostic-Tests/425267/5.1/Hexosaminidase_Testing PB - F.A. Davis Company ET - 7 DB - Nursing Central DP - Unbound Medicine ER -