10 mL (7.5 mL min.) Whole blood from 3 Lavender Top (EDTA) Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Provide brief clinical history.
Sample Daily by 4 pm; Report 4 days
Niemann-Pick disease is an autosomal recessive lysosomal storage disease caused by deficiency of enzyme Sphingomyelinase. It is of 2 types - Type A disease manifests in the first 6 months of life with rapid progressive CNS deterioration, hepatosplenomegaly ; failure to thrive. Type B disease manifests later in life with progressive hepatosplenomegaly eventually leading to cirrhosis. Mutations have been detected in NPC1 or NPC2 gene.