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.
Parameter(s) covered : 4
Report Frequency: Sample Daily by 4 pm; Report 4 days
Special Instruction: Provide brief clinical history.
Price : ₹ 2600.00
Parameters
- Plasma- Hexosaminidase A
- Plasma- Total Hexosaminidase
- White Cells- Total Hexosaminidase
- White Cells-Hexosaminidase A