| EX0806 GM2 GANGLIOSIDOSIS QUANTITATIVE, BLOOD; TAY SACHS & SANDHOFF DISEASE |
| Specimen: |
10 ml (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) / Green Top (Sodium heparin) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| NA |
48 hrs |
NA |
|
| Method: |
Enzyme Assay |
| Comment: |
This tests deficiency of enzyme Total Hexosaminidase A & B. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Tay Sachs and Sandhoff disease are GM2 gangliosidoses 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. |
| Doctor Specialty: |
Pediatrician |
| Disease: |
Inborn Errors of Metabolism |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
GENETICS |
| Pre Test Information: |
Clinical details must accompany the sample. |
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