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Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII
This test is used to aid in the diagnosis and monitoring of patients with mucopolysacchariodoses (MPS) types I, II, III, IV, VI, and VII.
Accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.
Dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS) and chondroitin-6-sulfate (C6S) are markers for a subset of MPS.
DS and HS in urine are markers for MPS types I, II, III, VI and VII.
KS in urine is a marker for MPS IVA and MPS IVB.
C6S in urine is a marker for MPS IVA and MPS VII.
Using liquid chromatography-tandem mass spectrometry, this quantitative urine mucopolysaccharide screen provides analysis of the specific sulfates that are associated with at least 13 different disorders.
For more information see Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)