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Mucopolysaccharide Electrophoresis

The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of lysosomal enzymes catalyzing the degradation of glycosaminoglycans (GAG) (mucopolysaccharides). Depending on the enzyme deficiency, the catabolism of dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate, or hyaluronan, may be blocked singly or in combination. Lysosomal accumulation of GAG molecules results in cell, tissue, and organ dysfunction. The MPSs share many clinical features, although in variable degrees. The disorders are chronic and progressive, and usually display a wide spectrum of clinical severity within one enzyme deficiency. GAG fragments generated by alternative pathways are excreted in urine, providing the basis for diagnostic screening for the MPS.

Test Name: Mucopolysaccharide electrophoresis
Test Code:
MPS ELECT
Test Description:
GAG fragments are separated by electrophoresis to determine the pattern of accumulation and presumptive diagnosis. Further testing by enzyme assay will be required to confirm diagnosis.
Synonyms:
MPS Separation/Electrophoresis
Indication:
This is a follow-up test to mucopolysaccharide quantitation, or urine metabolic screen that indicated the individual has elevated GAG excretion.
Related Tests: Mucopolysaccharide Quantitative Urine  
Quantitative measurement of total glycosaminoglycan excretion in the urine relative to the level of creatinine in the urine. This test is used to screen individuals suspected of having a mucopolysaccharidosis.

Clinical Links: National MPS Society
Availability:
Weekly
Turnaround Time:
10 days
Methodology:
Cellulose acetate electrophoresis
Reference Range:
Interpretive report will be provided
Requisition:
Consent Form:
Sample Requirements: Type
Urine: 10 ml random urine

Processing
Freeze

Shipping
Ship frozen overnight
Samples Received:
Mon - Fri. 8:00am - 5:00 pm PST
Special Considerations:
Test will only be performed if MPS Quant or Met Screen has been perfomed and MPS excretion is elevated.
Cost:
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions