23 %

Fabry Disease Quantitative, Blood

110 Ratings

Rs 2,000 Rs 2,600

Why book with us?

  • Free and On Schedule Sample Collection
  • 24/7 Service
  • Affordable
  • Quick and Accurate Reports

Test Description not updated

10 mL (5-7 mL min.) Whole blood from 3 Lavender Top (EDTA) Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Clinical details must accompany sample.

Enzyme Assay

Sample Daily by 4 pm; Report 4 days

Fabry disease is an X linked disorder caused by deficiency of the enzyme Alpha Galactosidase A due to mutations in 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.


Clinical details must accompany sample.

Get a Free Call

To Know about Services Detail or any Enquiry.

book health check