NIEMANN PICK DISEASE, QUANTITATIVE, BLOOD

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.

  • Test Type:
  • Pre-test Information:
    Provide brief clinical history
  • Report Delivery:
    Sample Daily by 4 pm; Report 4 days
  • Components:
    0

Sample Report