Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
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Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI
Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood
This test is used as a second-tier newborn screen for mucopolysaccharidosis (MPS) types I and II and to aid in the diagnosis and monitoring of patients with MPS types I, II, III, IV, and VI.
Accumulation of undegraded glycosaminoglycans (GAG) 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, HS, and KS in dried blood spots can aid in the diagnosis of MPS types I, II, III, IV, and VI.
See Newborn Screen Follow-up for Mucopolysaccharidosis Type I in Special Instructions.
For more information, see Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase in Special Instructions.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)