Storage Disease Panel

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

• Alpha-mannosidosis
• Beta-mannosidosis
• Fucosidosis
• Galactosialidosis
• Morquio syndrome IV (MPS IV)
• Mucolipidosis II also I-cell disease
• Hurler Syndrome (MPS I)
• Sanfilippo syndrome A (MPS IIIA)
• Sanfilippo syndrome B (MPS IIIB)
• Sanfilippo syndrome C (MPS IIIC)
• Sanfilippo syndrome D (MPS IIID)
• Maroteaux-Lamy syndrome (MPSVI)
• Sly Syndrome (MPS VII)
• Sandhoff Disease
• Sialidosis also Mucolipidosis type I (ML I)
• Tay-Sachs Disease

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.

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

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.