Fabry Disease Quantitative, Blood

23 %

Fabry Disease Quantitative, Blood

110 Ratings

Rs 2,000 Rs 2,600

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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.

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Clinical details must accompany sample.

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