| EX0624 FABRY DISEASE QUANTITATIVE, BLOOD |
| Specimen: |
10 mL (5–7 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 the enzyme Alpha Galactosidase A. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Fabry disease is an X-linked disorder caused by deficiency of the enzyme Alpha Galactosidase A due to mutations in the GALA gene. Clinically the disease manifests with angiokeratomas, hypohidrosis, corneal & lens opacities, and progressive small vessel disease of kidneys, heart & brain. Early initiation of enzyme therapy may prevent or slow the progression of life-threatening complications. |
| 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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