| EX1587 NIEMANN PICK DISEASE QUANTITATIVE, BLOOD |
| Specimen: |
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 |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 4 hrs |
72 hrs |
NA |
|
| Method: |
Enzyme assay |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Niemann-Pick disease is an autosomal recessive lysosomal storage disease caused by a deficiency of the 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 the NPC1 or NPC2 gene. |
| Doctor Specialty: |
Pediatrician |
| Disease: |
Inborn errors of metabolism |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
GENETICS |
| Pre Test Information: |
Provide brief clinical history. |
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