FABRY DISEASE, QUANTITATIVE, BLOOD

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.

  • Test Type:
  • Pre-test Information:
    Clinical details must accompany sample.
  • Report Delivery:
    Sample Daily by 4 pm; Report 4 Days
  • Components:
    0

Sample Report