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

  • Test Usage:
    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.
  • Report Availability:
    Sample Daily by 4 pm; Report 4 days
  • Sample Report:
64 Diagnostic Centers found for MUCOPOLYSACCHARIDOSIS (MPS) TYPE 1 (HURLER), QUANTITATIVE, BLOOD in Bhopal