POMPE DISEASE QUANTITATIVE, BLOOD
204 Ratings
Rs 3,210 Rs 2,450
24 % OFF
POMPE DISEASE IS AN AUTOSOMAL RECESSIVE LYSOSOMAL STORAGE DISEASE DUE TO DEFICIENCY OF ENZYME ALPHA GLUCOSIDASE LEADING TO PRIMARY GLYCOGEN STORAGE. INFANTILE FORM OF THE DISEASE IS SEVERE WITH HYPOTONIA, CARDIOMYOPATHY & HEPATOSPLENOMEGALY. LATE ONSET FORM PRESENTS WITH SLOWLY PROGRESSIVE MYOPATHY WITH RESPIRATORY INSUFFICIENCY. ENZYME REPLACEMENT THERAPY PROLONGS LIFE IN INFANTILE FORM AND PREVENTS DETERIORATION IN LATE ONSET FORM OF THE DISEASE.
Why book with us?
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Free and On Schedule Sample Collection
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24/7 Service
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Affordable
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Quick and Accurate Reports
10 ML (7.5 ML MIN.) WHOLE BLOOD FROM 3 LAVENDER TOP (EDTA) / GREEN TOP (SODIUM HEPARIN) TUBES. SHIP REFRIGERATED WITHIN 48 HOURS. CLINICAL HISTORY IS MANDATORY.
ENZYME ASSAY
REPORT ON 4TH DAY EVENING 7PM
CLINICAL HISTORY IS MANDATORY.
