Alpha-mannosidosis, Beta-mannosidosis, Fucosidosis, Galactosialidosis, Hurler syndrome (MPS I), Maroteaux-Lamy syndrome (MPS VI), Morquio syndrome A (MPS IVA), GM1 gangliosidosis (Morquio B), Mucolipidosis II (I-cell disease), Sandhoff disease, Sanfilippo syndrome A (MPS IIIA), Sanfilippo syndrome B (MPS IIIB), Sanfilippo syndrome C (MPS IIIC), Sanfilippo syndrome D (MPS IIID), Sly syndrome (MPS VII), Tay-Sachs disease/Sandhoff disease
Storage Disease Panel
Key Information
Lab:
TAT:
21 days
Price:
$900
CPT Code(s):
83864x2, 84377, 84275
Test Code:
BMPS, BOLG , BSIA
Storage Disease Panel
This urine panel provides a comprehensive screen for lysosomal storage diseases, including mucopolysaccharide analysis, oligosaccharide analysis, and sialic acid analysis. Many of these disorders have overlapping features or may present with similar phenotypes in young children. These tests are not diagnostic but can help rule out a storage disorder or narrow the list of possible diagnoses. Each of these biochemical tests can also be ordered individually.
Note: The turnaround time for the three tests is 21 days; separate reports will be issued as each test is completed.
Clinical Information
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
Technical Information
Urine MPS Analysis: Total glycosaminoglycans are analyzed by 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry. Chondroitin sulfate, dermatan sulfate, heparan sulfate and keratan sulfate are analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS).
Oligosaccharide Analysis: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Sialic acid Analysis: High performance liquid chromatography (HPLC)
Specimen Requirements
Urine: A minimum of 2 mL random catch urine
Transport Instructions
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