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.
Parameter(s) covered : 2
Report Frequency: Sample Daily by 4 pm; Report 4 days
Special Instruction: Provide brief clinical history.
Price : ₹ 2200.00
Parameters
- Control Value
- Patient value