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Test ID: MPSQU    
Mucopolysaccharides Quantitative, Random, Urine

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Useful For Suggests clinical disorders or settings where the test may be helpful

Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Highlights

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.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For more information see Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Mucopolysaccharides Quant, U

Aliases Lists additional common names for a test, as an aid in searching

Arylsulfatase B Deficiency
Beta-Galactosidase Deficiency
Beta-Glucuronidase Deficiency
Chondroitin-6-sulfate
Chondroitin-6 sulfate
Dermatan Sulfate
GAGS (Glycosaminoglycans)
Galactose-6-Sulfatase Deficiency
Glycosaminoglycans (GAGS)
Heparan Sulfate
Hunter syndrome
Hurler syndrome
Hurler-Scheie syndrome
Iduronate Sulfatase Deficiency
Iduronidase Deficiency
Keratan Sulfate
Maroteaux Lamy syndrome
Maroteaux-Lamy syndrome
Morquio A
Morquio B
Mucopolysaccharides
Mucopolysaccharidosis I (MPS I)
Mucopolysaccharidosis II (MPS II)
Mucopolysaccharidosis III (MPS III)
Mucopolysaccharidosis IV (MPS IVA)
Mucopolysaccharidosis IV (MPS IVB)
Mucopolysaccharidosis VI (MPS VI)
Mucopolysaccharidosis VII (MPS VII)
Multiple sulfatase deficiency
Sanfilippo syndrome
Scheie syndrome
Sly syndrome