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

Cost

$750 for panel

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.

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
Kellie Walden, MS, CGC

Analyte Panel, Biochemical Testing
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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