Sandhoff disease

Diagnosis and Testing

What testing is available for Sandhoff disease?

Testing for Sandhoff disease can be done two ways:

  1. DNA testing: this testing is someone's blood or saliva is collected and the HEXB gene is analyzed for changes or mutations that can cause Sandhoff disease.
  1. Enzyme testing: this testing is usually done on someone's blood and looks at the level of a certain chemical called hexosaminidase B. If the level of this chemical is very low or missing, this is a sign of Sandhoff disease.

Patients can find out more about genetic testing of the HEXB gene by going to the Genetic Testing Registry website or by talking to a genetic counselor. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.

Genetics Home Reference "Sandhoff Disease"

National Institute of Neurological Disorders and Stroke "Sandhoff Disease Information Page"

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