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
There's more to see -- the rest of this topic is available only to subscribers.