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Test Description not updated
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
Sample Daily by 4 pm; Report 4 days
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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