Maroteaux-Lamy syndrome (MPS VI)
Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)
Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)
This test quantitatively measures total glycosaminoglycans and dermatan sulfate (uDS) in urine and can be used to monitor treatment effectiveness in patients with Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI, MPS VI), including those receiving bone marrow transplant or enzyme replacement therapy.
Clinical Information
Maroteaux-Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. Other features may include inguinal hernia, obstructive airway disease, skeletal abnormalities and cardiac valve disease. The progression of Maroteaux-Lamy syndrome varies among affected individuals, and intelligence is typically not affected.
Technical Information
Total glycosaminoglycans are analyzed by 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry. Dermatan sulfate is analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Specimen Requirements
Urine is the sample type for this test, and requires a minimum of 2 mL random catch urine.
Transport Instructions
The urine specimen should be frozen after collection and shipped frozen, preferably on dry ice.
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC