MUCOPOLYSACCHARIDOSIS (MPS) TYPE VI (MAROTEAUX LAMY) QUANTITATIVE, BLOOD

257 Ratings

Rs 2,148 Rs 1,640

24 % OFF

MAROTEAUX-LAMY IS TYPE VI MPS DUE TO DEFICIENT ENZYME ACTIVITY OF ARYLSULPHATASE B. IT SHOWS AN AUTOSOMAL RECESSIVE INHERITANCE & ONSET IS LATE INFANTILE. DERMATAN SULPHATE IS EXCRETED IN URINE. PATIENTS PRESENT WITH HEPATOSPLENOMEGALY, SKELETAL DYSPLASIA, CORNEAL CLOUDING, COARSE FACIES & VALVULAR HEART DISEASE. AN IMPORTANT HEMATOLOGIC FINDING IS GRANULATED NEUTROPHILS & LYMPHOCYTES. NO COGNITIVE DEGENERATION IS PRESENT.

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10 ML (7.5 ML MIN.) WHOLE BLOOD FROM 3 LAVENDER TOP (EDTA) OR 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.

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