Storage Disease Screening Panel - urine

Test description This panel provides a comprehensive screening for lysosomal storage diseases. 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.
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
  • Qualitative analysis of mucopolysaccharides will be made by electophoresis with positive and negative controls run concurrently.
  • Oligosaccharides are analyzed by thin layer chromatography in conjunction with appropriate controls.
  • Total and Free sialic acid is measured by the barbituric acid method and results are compared with controls run concurrently.
Associated Tests This panel includes the mucopolysaccharides electrophoresis, oligosaccharides, and siaclic acid. Each of these tests may also be ordered separately.
Enzyme analysis is available for a number of lysosomal storage diseases through the Biochemical Diagnostic Lab.
Specimen Requirements This panel requires a urine specimen. The urine should be at least 10 ml of random catch.
Transport The urine sample must be 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.
Turnaround time 21 days for the completion of all tests.
Separate reports will be generated and sent out as each test is completed
CPT Codes MPS electrophoresis: 83864
Oligosaccharides: 82489
Sialic acid: 84275
Cost $525 for panel
Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS or Tim Wood, PhD at 1-800-473-9411

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Kellie King, MS, CGC

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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