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.
Parameter(s) covered : 2
Report Frequency: Sample Daily by 4 pm; Report 4 days
Special Instruction: Provide brief clinical history.
Price : ₹ 2400.00
Parameters
- Control Value
- Patient Value