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

  • Test Usage:
    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.
  • Report Availability:
    Sample Daily by 4 pm; Report 4 days
  • Sample Report:
15 Diagnostic Centers found for GM2 GANGLIOSIDOSIS, QUANTITATIVE,BLOOD; TAY SACHS AND SANDHOFF DISEASE in Amritsar