Diagnosis

To confirm that your baby has Tay-Sachs disease, your doctor will ask you about the child's symptoms and any hereditary family disorders and will order a diagnostic blood test.

The blood test checks the levels of an enzyme called hexosaminidase in the child's blood. The levels are low or absent in Tay-Sachs disease.

While performing a careful eye exam of your child, the doctor may see a cherry-red spot in the back of the child's eyes, which is a sign of the disease. You may need to see a pediatric neurologist and an ophthalmologist for nervous system and eye examinations.