Beta Hexosaminidase T GM2-2 / Sandhoff Blood

This test measures the activity of the enzyme beta hexosaminidase in the blood. 

This test is primarily done to

• Diagnose and monitor GM2 gangliosidosis, specifically Sandhoff disease.
• Help evaluate the effectiveness of treatment and determine carrier status for genetic counselling. 
• Differentiate between other conditions that may present with similar symptoms.

This test may be recommended if you or your child has symptoms suggestive of GM2 gangliosidosis, such as developmental delays, muscle weakness, seizures, or an enlarged liver and spleen. It is also advised if there is a family history of the disease or for genetic counselling purposes.

Abnormal results, i.e., significantly reduced or absent activity may suggest the presence of GM2 gangliosidosis. 

This test requires a blood sample, usually collected by a trained healthcare professional. The procedure involves inserting a needle into a vein, typically in the arm, to draw a small amount of blood. 

No specific preparations are necessary for this test. However, it is always advisable to follow your doctor's instructions, such as fasting requirements or any medication adjustments that may be needed before the blood draw. Please reach out to your healthcare provider for any specific requirements.

Other tests that may be ordered alongside the Beta Hexosaminidase T GM2-2 / Sandhoff Blood test include:

• Genetic testing to confirm the presence of specific mutations associated with GM2 gangliosidosis
• Imaging studies like MRI or CT scan to assess changes in the brain and nervous system

Hex A T GM2-2/ Sandhoff Blood, Beta-hexosaminidase total, HEXB gene mutation testing

GM2 gangliosidosis refers to a group of rare genetic disorders characterised by the accumulation of GM2 ganglioside in the brain and nervous system. It includes Tay-Sachs disease, Sandhoff disease, and AB variant. These conditions lead to progressive neurological deterioration, muscle weakness, and developmental delays.