Genetic Test
HEXB (Hexosaminidase Subunit Beta) encodes beta-hexosaminidase, an enzyme that breaks down certain sugars. This test targets four gene variants associated with GM2 gangliosidosis.
Disease Description
Gangliosidosis is a genetic disorder caused by the accumulation of gangliosides—a type of molecule composed of sugar and lipid—as well as certain polysaccharides and glycolipids within cells. Gangliosidosis is classified as either GM1 or GM2. GM2 gangliosidosis is caused by reduced activity of the enzyme beta-hexosaminidase. Hexosaminidase promotes the degradation of gangliosides, and if the enzyme does not function properly, these substances accumulate in the nervous system and cause various problems. Among the types of GM2 gangliosidosis, Sandhoff disease is caused by mutations in the HEXB gene, which gradually destroys nerve cells in the brain and spinal cord and can lead to organ enlargement and dysfunction.
