Tay-Sachs Disease Report

Tay-Sachs Disease Tay-Sachs disease is a rare genetic condition characterized by severe neurological alterations caused by neuronal death in the brain and spine and is divided in three forms. The disease-causing gene is called HEXA and encodes the lysosomal enzyme beta-hexosaminidase A, responsible for the breakdown of the GM2 ganglioside. This molecule, of a lipid nature, is found in cell membranes and, if it accumulates to toxic levels, damages the cells of the central nervous system. 1 genes analyzed It is recommended if: This panel is particularly suitable for those who are planning a pregnancy and want to know their carrier status, as well as for those with a positive family history of the disease. List of main conditions: GM2-gangliosidosis, several forms