How is it Diagnosed?

Each new diagnosis of Tay-Sachs, Sandhoff and similar related allied diseases is a unique journey. Babies affected by Tay-Sachs, Sandhoff, GM-1, Niemann-Pick, Metachromatic Leukodystrophy and other lipid storage diseases display a cherry-red spot in the back of the eye and is clearly visible when viewed by a train eye healthcare professional like an ophthalmologist or an optometrist. Initially many parents notice developmental delays but pediatricians often dismiss these concerns as normal and the baby will catch up. Around 10-14 months of age children may start to exhibit trouble tracking and/or focusing with their eyes, so parents schedule an appointment for an eye exam thinking that the worst is my child will need glasses. The cherry-red spot is quickly seen and an initial diagnosis of Tay-Sachs or similar devastating disease is made. Other times diagnosis is made by a neurologist or geneticists and the completion of a metabolic evaluation.

Children with Juvenile Tay-Sachs or Sandhoff and adults dealing with the chronic forms often experience a longer road to a diagnosis. Unfortunately many healthcare providers still believe that Tay-Sachs and Sandhoff only affect babies. Many affected children and adults express mixed emotions when finally getting a diagnosis. After years of not knowing the cause of their progressive symptoms there is a certain amount of relief when an accurate diagnosis is determined. At the same time, Tay-Sachs and Sandhoff are difficult diagnosis to receive and there can be a sense of regret and frustration.

Enzymatic test

The enzyme assay is a biochemical test that measures the level of enzyme in a person’s blood. Babies, children and adults have low or non-existent levels of Hex-A in their body fluid and cells are diagnosed with Tay-Sachs. Low or non-existent levels of Hex A and B indicates Sandhoff disease.

The NTSAD International Tay-Sachs Carrier Testing Quality Control Program is a voluntary laboratory proficiency testing program. The program evaluates laboratory performance of HexA enzyme testing, in serum and leukocytes. Due to the similarity of the carrier and diagnostic enzymatic test for Tay-Sachs and Sandhoff many of the labs in the Quality Control Program will provide diagnostic testing services also. Please note, NTSAD publishes the Test Centers Near You solely for general informational purposes. The information in this listing is not medical or professional advice, nor is it a guarantee or warranty of any test result or other procedure. NTSAD, therefore, assumes no liability for use of the information published in this directory by any recipient thereof. It is your responsibility to carefully review this and any appropriate medical information with your physician or genetic counselor before acting upon it for any purpose. This directory reflects only the information available at the time of its publication.

Genetic test

Tay-Sachs and Sandhoff can also be diagnosed through analysis of DNA mutations in the gene coding for the Hex A and Hex B enzymes respectively.