Mucopolysaccharides Quantitative, Random, Urine
Use
This test supports the biochemical diagnosis of one of the mucopolysaccharidoses types I, II, III, IV, VI, or VII. It aids in the diagnosis and monitoring of patients with mucopolysaccharidoses, a group of genetic disorders caused by the accumulation of undegraded glycosaminoglycans (GAGs) leading to cellular dysfunction. Key markers such as dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin-6-sulfate in urine help in identifying specific MPS types.
Special Instructions
Utilizes liquid chromatography tandem mass spectrometry for analysis of specific sulfates associated with at least 13 different disorders. Physicians should refer to diagnostic algorithms for lysosomal disorders and consider immediate action based on newborn screening results for MPS type I.
Limitations
This test specifically measures quantitative levels of mucopolysaccharides in random urine and is focused on the markers dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin-6-sulfate. Limitations include potential overlap in marker profiles among different MPS types and the need for clinical correlation with other findings. Interpretation may be affected by insufficient sample volume or improper storage of the specimen.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
Not provided
Minimum Volume
Not provided