Tay-Sachs Disease - Diagnosis



A preliminary diagnosis for Tay-Sachs disease can usually be made by looking into the baby's eyes. If a baby has Tay-Sachs a characteristic cherryred spot can be seen at the back of the eye.

In order to confirm this diagnosis, blood tests are performed that measure the amount of enzyme needed to break down gangliosides. If the level is very low, the baby has Tay-Sachs disease.

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