Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes

Clinical Use

Use

The mucopolysaccharidoses (MPS) are a group of disorders caused by a deficiency of any of the enzymes involved in the stepwise degradation of glycosaminoglycans (GAG). This enzyme panel supports the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency. The test aids in screening individuals with clinical signs and symptoms suspicious for these conditions. If an enzyme deficiency is detected, additional biochemical or molecular testing is required to confirm a diagnosis.

Special Instructions

Not provided.

Limitations

The test is not useful for carrier detection and abnormal results are not sufficient to establish a diagnosis of a particular disease. Additional biochemical or molecular genetic analyses are required for verification. Enzyme levels may appear normal in individuals receiving enzyme replacement therapy or who have undergone hematopoietic stem cell transplant. Mucolipidosis II may not be detectable, and pseudodeficiencies can result in reduced enzyme activity.

Test Details

New York Approved

Methodology

Mass Spectrometry (LC-MS/MS)

Biomarkers

9 targets

Arylsulfatase BBeta-galactosidaseBeta-glucuronidaseHeparan-alpha-glucosaminide N-acetyltransferaseHeparan-N-sulfataseIduronate-2-sulfataseN-acetyl-alpha-D-glucosaminidaseN-acetylgalactosamine-6-sulfatase+1 more