Tay-Sachs Disease [HEXA]: A progressive neurodegenerative disorder which is characterized by the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life. A gray-white area around the retinal fovea centralis, due to lipid-laden ganglion cells, leaving a central ‘cherryred’ spot is a typical funduscopic finding. Pathologic verification is provided by the finding of the typically ballooned neurons in the central nervous system. An early and persistent extension response to sound (‘startle reaction’) is useful for recognizing the disorder.
For detailed information about this disease visit : National Institutes of Health (NIH) >
Carrier Frequency by Ethnicity >
For Tay-Sachs disease screening, enzyme analysis using blood is optional, as new research has established that comprehensive DNA sequencing of the Tay-Sachs gene is just as accurate as enzyme analysis.
NTSAD Position Statement 2019 Update: Standards for Tay-Sachs Carrier Screening >