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Test ID OLIGU Oligosaccharide Screen, Random, Urine

Useful For

Screening for selected oligosaccharidosis

Disease States

  • Sialidosis
  • Galactosialidosis

Method Name

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

Reporting Name

Oligosaccharide Screen, U

Specimen Type

Urine


Ordering Guidance


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

 

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



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 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

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday

Report Available

8 to 15 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 US 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

NY State Approved

Yes

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.

Genetics Test Information

Oligosaccharidoses are characterized by the abnormal accumulation of incompletely degraded oligosaccharides in cells and tissues and the corresponding increase of related free oligosaccharides in the urine.

 

Clinical features of oligosaccharidoses often overlap; therefore, urine screening is an important tool in the initial workup for these disorders.

 

Enzyme or molecular analysis is required to make a definitive diagnosis.