Storage Disease Panel

Test Information

This urine panel provides a comprehensive screening for lysosomal storage diseases and includes the mucopolysaccharides analysis, oligosaccharides, and siaclic acid analysis (LSDs). 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.

Each of these biochemical tests may also be ordered separately.

Turnaround Time

21 days for the completion of all tests. Separate reports will be generated and sent out as each test is completed

CPT Code(s)

MPS analysis: 83864 x 2, Oligosaccharides: 84377, Sialic acid: 84275


$750 for panel


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


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.

Specimen Requirements

This panel requires at least 10 ml of random catch urine.

Transport Instructions

The urine sample must be shipped 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.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger St...

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