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Test Code OLIGU Oligosaccharide Screen, Random, Urine

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Method Name

Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

Reporting Name

Oligosaccharide Screen, U


Advisory Information


This is the recommended test when clinical features are suggestive of, or when molecular testing results suggest, an oligosaccharidosis disorder identified by this test.

 

LSDS / Lysosomal Storage Disorders Screen, Random, Urine is the recommended screening test for the initial workup of a suspected lysosomal storage disorder particularly when clinical features are non-specific.



Necessary Information


1. Patient's age is required.

2. Biochemical Genetics Patient Information (T602, in Special Instructions) is recommended. This information aids in providing a more thorough interpretation of results. Send information with specimen.



Specimen Required


Supplies: Urine Tubes, 10 mL (T068)

Collection Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 8 mL

Pediatric Volume: 2 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.

3. Immediately freeze specimen.


Specimen Type

Urine

Specimen Minimum Volume

2.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Frozen (preferred) 365 days
  Refrigerated  15 days
  Ambient  7 days

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Varies

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

84377

LOINC Code Information

Test ID Test Order Name Order LOINC Value
OLIGU Oligosaccharide Screen, U 49284-3

 

Result ID Test Result Name Result LOINC Value
64889 Oligosaccharide Screen, U 49284-3

Useful For

Screening for selected oligosaccharidosis

Interpretation

This is a screening test; not all oligosaccharidoses are detected. The resulting excretion profile may be characteristic of a specific disorder; however, abnormal results require confirmation by enzyme assay or molecular genetic testing.

 

When abnormal results are detected with characteristic patterns, a detailed interpretation is given, including an overview of results and significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional confirmatory studies (enzyme assay, molecular genetic analysis).

Testing Algorithm

Oligosaccharide analysis may be considered in the workup of unexplained refractory epilepsy. For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instructions.

Forms

1. Biochemical Genetics Patient Information (T602) in Special Instructions

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.