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  • GM2 GANGLIOSIDOSIS, QUANTITATIVE,BLOOD; TAY SACHS AND SANDHOFF DISEASE

GM2 GANGLIOSIDOSIS, QUANTITATIVE,BLOOD; TAY SACHS AND SANDHOFF DISEASE

Tay Sachs and Sandhoff disease are GM2 gangliosidosis which are autosomal recessive disorders. Tay Sachs disease is caused due to deficiency of enzyme Hexosaminidase A whereas Sandhoff disease is due to deficiency of enzyme Hexosaminidase A & B. Tay Sachs disease has 3 forms - Infantile form is a fatal neurodegenerative disease with macrocephaly, loss of motor skills, increased startle reaction & macular cherry red spot. Juvenile-onset form presents with ataxia & dementia with death by 10-15 years. Adult-onset form starts with clumsiness in childhood; progressive motor weakness in adolescence & spinocerebellar signs & dysarthria in adulthood.

  • Test Type:
  • Pre-test Information:
    Provide clinical details
  • Report Delivery:
    Sample Daily by 4 pm; Report 4 days
  • Components:
    0

Sample Report