NIEMANN PICK DISEASE, QUANTITATIVE, BLOOD

  • Test Usage:
    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.
  • Report Availability:
    Sample Daily by 4 pm; Report 4 days
  • Sample Report:
13 Diagnostic Centers found for NIEMANN PICK DISEASE, QUANTITATIVE, BLOOD in Bijnor