Test Catalog

Test ID: MPSBS    
Mucopolysaccharidosis, Blood Spot

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

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

 

Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spots

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 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.

Highlights

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), 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.

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

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.

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

Mucopolysaccharidosis, BS

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

Mucopolysaccharidosis I (MPS I)
Hurler syndrome
Scheie syndrome
Hurler-Scheie syndrome
Mucopolysaccharidosis II (MPS II)
Hunter syndrome
Mucopolysaccharidosis III (MPS III)
Sanfilippo syndrome
Mucopolysaccharidosis VI (MPS VI
Maroteaux-Lamy syndrome
Dermatan Sulfate
Heparan Sulfate
Morquio A syndrome
Morquio B syndrome
Mucopolysaccharidosis IV (MPS IV)