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Geisinger Medical Laboratories Test Catalog
URINE GLYCOSAMINOGLYCANS |
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Geisinger Epic Procedure Code: LAB3790
Geisinger Epic ID: 143080
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SPECIMEN COLLECTION |
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Specimen type: |
Urine | |
Preferred collection container: |
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Specimen required: |
Adult: 20 mL urine; minimum 10 mL. Pediatric: 4 mL urine; minimum 2 mL. | |
Special notes: |
Include the patient's age with requisition. | |
Patient preparation: |
An early morning specimen is preferred. | |
| SPECIMEN PROCESSING |
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Specimen processing instructions: |
Freeze immediately. Ship specimen frozen on dry ice. Do not thaw. | |
Transport temperature: |
Frozen. | |
Specimen stability: |
Room temperature: Unacceptable. Refrigerated Unacceptable. Frozen -20° C: 8 weeks. Frozen -80° C: 8 weeks. | |
Rejection criteria: |
Unfrozen specimens • Specimens outside of listed stability | |
TEST DETAILS |
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CPT code(s): |
83864 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Methodology: |
Colorimetric (1,9-Dimethyl-Methylene Blue) Dye Binding |
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Synonyms: |
Quest test code 30422, Urine Glycos
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Clinical significance: |
The mucopolysaccharidoses (MPSs) are a family of inheritable disorders caused by deficiency of lysomal enzymes required to degrade mucopolysaccharides, also known as glycosaminoglycans (GAGs). The undegraded or partially degraded gags are stored in lysosomes and excreted in the urine. The quantity of excreted urinary gags is age-dependent. Infants secrete more GAGs than adults. Normal urine contains primarily chondroitin sulfate with small quantities of heparin sulfate and dermatan sulfate. Once mucopolysaccharidoses is diagnosed by total GAG analysis, a differential diagnosis based upon the abnormal distribution of sulfated GAGs in urine must be performed. Differential diagnosis is a requirement because many of the various enzyme deficiencies share similar clincal features. These features include a chronic and progressive course, multi-system involvement and organomegaly. Hearing, vision, cardiovascular function and joint mobility are affected. Profound mental retardation is found in the Hurler, Hunter and San Filippo syndromes (MPS types I, II and III), but normal intellectual functioning is retained in other MPSs and some mildly affected Hunter patients. | |