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.
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.