Mucopolysaccharidosis (mps) Type 1 (hurler) Quantitative, Blood

25 %

Mucopolysaccharidosis (mps) Type 1 (hurler) Quantitative, Blood

212 Ratings

Rs 4,700 Rs 6,251

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Test Description not updated

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

Sample Daily by 4 pm; Report 4 days

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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Provide brief clinical history

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