26 %

NIEMANN PICK DISEASE QUANTITATIVE, BLOOD

172 Ratings

Rs 2,190 Rs 2,957

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Test Description not updated

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.

Enzyme assay

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.

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