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Test ID: MPSER    
Mucopolysaccharides Quantitative, Serum

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

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

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

This test provides diagnostic testing and monitoring of patients with mucopolysaccharidoses (MPS) types I, II, III, IV, VI, and VII.

Highlights

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.

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, S

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

Arylsulfatase B Deficiency
Beta-Galactosidase Deficiency
Beta-Glucuronidase Deficiency
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)
Sanfilippo syndrome
Scheie syndrome
Sly syndrome