Tay-Sachs Disease (part of Ashkenazi Jewish FlexPanel)
PrintThis test is part of the Ashkenazi Jewish FlexPanel.
Tay-Sachs Disease symptoms generally appear by six months of age. Tay-Sachs children lose motor skills and mental functions and over time, become blind, deaf, mentally retarded, paralyzed and non-responsive to the environment. Tay-Sachs children usually die by age five. It is an autosomal recessive disorder caused by mutations in the HEXA gene. It occurs more frequently in the Ashkenazi Jewish population, where the carrier rate is 1 in 28. Ashkenazi Jewish individuals with a negative family history who test negative for the R249W, G269S, IVS9+1G>A, R247W, 1278insTATC, IVS12+1G>C, del7.6kb and IVS7+1G>A mutations in HEXA have a revised carrier risk of 1 in 675.
Analysis of the R249W, G269S, IVS9+1G>A, R247W, 1278insTATC, IVS12+1G>C, del7.6kb and IVS7+1G>A mutations in HEXA by pyrosequencing. This test can be ordered as part of the Ashkenazi Jewish FlexPanel.
The mutation detection rate in the Ashkenazi Jewish population is 96%.