MPSBS - Overview: Mucopolysaccharidosis, Blood Spot

Test Catalog

Test Name

Test ID: MPSBS    
Mucopolysaccharidosis, Blood Spot

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

Quantification of heparan sulfate and dermatan sulfate in dried blood spots can support the biochemical diagnosis of one of the mucopolysaccharidoses types I, II, III, or VI

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, and VI.


Accumulation of undegraded GAGs leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.


Dermatan sulfate (DS) and heparan sulfate (HS) are markers for a subset of mucopolysaccharidoses (MPS).


Testing for DS and HS in dried blood spots can aid in the diagnosis of MPS types I, II, III, and VI.

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

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

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


Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

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