10 mL (7.5 mL min.) whole blood in 3 Lavender Top (EDTA) OR Green Top (Sodium heparin) tubes. Ship refrigerated. DO NOT FREEZE. Clinical details must accompany sample.
Sample Daily by 4 pm; Report 4 days
Gaucher disease is an autosomal recessive lysosomal storage disease that leads to accumulation of glucocerebroside in tissues due to defective activity of enzyme Beta Glucosidase with mutations in GBA1 gene. All patients have non-uniform infiltration of bone marrow by Gaucher cells. Type 1 Gaucher disease is the commonest ; is Non-Neuronopathic whereas Types 2 ; 3 are Neuronopathic. Types 1 ; 3 Gaucher disease can be easily treated by enzyme replacement therapy. Type 2 disease is rare, severe leading to death by 2 years of age.