Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
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Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of one of the mucopolysaccharidoses types I, II, III, IV, VI, or VII
This test provides diagnostic testing and monitoring of patients with mucopolysaccharidoses (MPS) types I, II, III, IV, VI, and VII.
Accumulation of undegraded glycosaminoglycans (GAG; also known as mucopolysaccharides) leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.
Dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS) are markers for a subset of mucopolysaccharidoses (MPS).
Testing for DS and HS in serum can aid in the diagnosis of MPS types I, II, III, VI, and VII.
Testing for KS in serum can aid in the diagnosis of MPS IVA and MPS IVB.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)