Storage Disease Screening Panel - urine

Test description This panel provides a comprehensive screening for lysosomal storage diseases. Many of these storage disorders have overlapping features or may present with similar phenotypes in young children. These tests are not diagnostic but may help rule out a storage disorder or narrow down the list of possible diagnoses.
Indications A storage disorder may be considered in children with:
  • developmental delay
  • regression of acquired skills
  • failure to thrive
  • coarse facies
  • hepatosplenomegaly
  • corneal clouding
  • stiff joints
  • dysostosis multiplex
Methodology
  • Quantitative analysis of total glycosaminoglycans (GAGs) is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry. Quantitative analysis of the individual component GAGs (chondroitin sulfate, dermatan sulfate, heparan sulfate and keratan sulfate) is performed by stable isotope dilution liquid chromatography-tandem mass spectrometry (LC-MS/MS).
  • Oligosaccharides are analyzed liquid chromatography tandem mass spectrometry (LC-MS/MS). 
  • Total and free sialic acid is detected using High Pressure Liquid Chromatography (HPLC) following a fluorogenic reaction with DMB both before and after hydrolysis.
Associated Tests This panel includes the mucopolysaccharides analysis, oligosaccharides, and siaclic acid. Each of these tests may also be ordered separately.
Enzyme analysis is available for a number of lysosomal storage diseases through the Biochemical Diagnostic Lab.
Specimen Requirements This panel requires at least 10 ml of random catch urine.
Transport The urine sample must be frozen, preferably on dry ice. If the sample can be delivered the same day, it may be sent cold or at room temperature. Samples must be sent frozen by overnight delivery services or courier.
Turnaround time 21 days for the completion of all tests.
Separate reports will be generated and sent out as each test is completed
CPT Codes MPS analysis: 83864 x 2
Oligosaccharides: 84377
Sialic acid: 84275
Cost $750 for panel
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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