| EX0763 GAUCHER DISEASE QUANTITATIVE, BLOOD |
| Specimen: |
10 mL (7.5 mL min.) whole blood in 3 Lavender Top (EDTA) OR Green Top (Sodium heparin) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| NA |
72 hrs |
NA |
|
| Method: |
Enzyme assay |
| Comment: |
This tests the deficiency of the enzyme Beta Glucosidase. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Gaucher disease is an autosomal recessive lysosomal storage disease that leads to the accumulation of glucocerebroside in tissues due to the defective activity of the enzyme Beta Glucosidase with mutations in the GBA1 gene. All patients have non-uniform infiltration of bone marrow by Gaucher cells. Type 1 Gaucher disease is the commonest & is Non-Neuronopathic whereas Types 2 & 3 are Neuronopathic. Types 1 & 3 Gaucher disease can be easily treated by enzyme replacement therapy. Type 2 disease is rare, severe leading to death by 2 years of age. |
| 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. |
Reviews
There are no reviews yet.