Beta Hexosaminidase A Enzyme Assay Test

Wear a half-sleeved shirt on as full-sleeved shirt might pose difficulty in pulling up the sleeves. Do not wear sweater or jacket. No specific requirement is required for this test. Fasting is not necessary and the patient may continue taking any medication that the patient is already taking by informing your doctor. If your blood sample is needed for other tests then fasting may be required in some cases. Please kindly follow the instructions given by the lab.

The test is used to detect lysosomal storage disorder, also referred to as GM2 gangliosidoses, caused by deficiencies of the enzymes hexosaminidase A (beta unit). It is used in the carrier detection and diagnosis of the Sandhoff Disease.

HEXOSAMINIDASE TOTAL, S < or =15 years: > or =20 nmol/min/mL > or =16 years: 10.4 - 23.8 nmol/min/mL

HEXOSAMINIDASE PERCENT A, S < or =15 years: 20-90% or =16 years: 56-80%

Depending on the results the lysosomal storage disorder can be detected.

About 1 ml or just 2 teaspoons of the blood sample will be drawn from your body. This test needs to be conducted in a well-equipped diagnostic lab with Beta Hexosaminidase A Enzyme Assay test facility. The skin is cleaned with an alcohol pad. In the next step, the needle will be inserted into the body through the vein which is easily visible over the cleaned skin. The blood sample will be collected through the tube attached to the needle which contains the serum gel. The tube is separated from the needle and closed with a lid and with the patient’s name on it. The blood sample tube is shaken down to remove serum from the clot and then it is sent to the research laboratory for examination.