MUCOPOLYSACCHARIDOSIS (MPS) TYPE 1 (HURLER) QUANTITATIVE, BLOOD

MUCOPOLYSACCHARIDOSIS (MPS) TYPE 1 (HURLER) QUANTITATIVE, BLOOD

227 Ratings

Rs 6,204 Rs 4,700

24 % OFF

HURLER SYNDROME IS TYPE I MPS DUE TO DEFICIENT ENZYME ACTIVITY OF ALPHA-L-IDURONIDASE. DERMATAN SULPHATE AND HEPARAN SULPHATE ARE EXCRETED IN URINE. IT IS AN AUTOSOMAL RECESSIVE DISORDER. PATIENTS PRESENT WITH COGNITIVE DEGENERATION, HEPATOSPLENOMEGALY, SKELETAL DYSPLASIA, CORNEAL CLOUDING, COARSE FACIES & CARDIOVASCULAR INVOLVEMENT. CLINICAL ONSET IS INFANTILE OR INTERMEDIATE. AN IMPORTANT HEMATOLOGIC FINDING IS VACUOLATED LYMPHOCYTES.

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