What Is Tay-Sachs disease? Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common type of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme protein called hexosaminidase a hex A needed for breaking …
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…noncarriers, but this is plenty for the carrier's own needs. A blood sample also can be used to perform DNA-based genetic testing. These are tests that look for known changes in the hex a gene that cause the four forms of Tay-Sachs. This kind of testing may be recommended if the results of the usual carrier-screening test discussed above are uncertain. DNA tests also can be used to diagnose late onset forms of hex A.