NIEMANN PICK DISEASE QUANTITATIVE, BLOOD
228 Ratings
Rs 2,957 Rs 2,190
26 % OFF
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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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
REPORT ON 4TH DAY EVENING 7PM
PROVIDE BRIEF CLINICAL HISTORY.
