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Test Code OLINR Oligosaccharide Screen, Random, Urine

Method Name

Only orderable as part of a profile, See LYSDU / Lysosomal Storage Disorders Screen, Urine.

 

For information regarding oligosaccharides, see OLIGU / Oligosaccharide Screen, Urine.

 

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

Reporting Name

Oligosaccharide Screen, U

Specimen Type

Urine


Necessary Information


Patient's age is required.



Specimen Required


Only orderable as part of a profile. See LYSDU / Lysosomal Storage Disorders Screen, Urine.

 

For information regarding oligosaccharides, see OLIGU / Oligosaccharide Screen, Urine.

 

Supplies: Urine Tubes, 10 mL (T068)

Specimen Volume: 6 mL

Pediatric Volume: 2 mL

Collection Instructions:

1. Collect a random urine specimen (early morning preferred).

2. Immediately freeze specimen.


Specimen Stability Information

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

Reference Values

Only orderable as part of a profile. See LYSDU / Lysosomal Storage Disorders Screen, Urine.

 

For information regarding oligosaccharides, see OLIGU / Oligosaccharide Screen, Urine.

Performing Laboratory

Mayo Medical 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 U.S. Food and Drug Administration.

CPT Code Information

84377

Useful For

Screening for possible oligosaccharidoses

Disease States

  • Sialidosis
  • Galactosialidosis

Specimen Minimum Volume

2 mL

Reject Due To

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

NA

Clinical 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.

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).

Cautions

This test may give false-negative results, especially in older patients with mild clinical presentations.

 

This test may give false-positive Pompe disease results, especially in pediatric patients on infant formula.

 

Enzyme or molecular analysis is required to confirm suspected diagnosis.

Method Description

Urine samples are extracted using Oasis HLB and carbograph columns and lyophilized overnight. Oligosaccharides are permethylated, which replaces all hydroxy groups (-OH) with methoxy groups (-O-CH3) and esterifies carboxyl groups (-COOH) to (-COOCH3). After permethylation, the tubes are centrifuged and the supernatant taken off of the sodium hydroxide pellet. The supernatant is quenched with water, neutralized with acetic acid, extracted onto an Oasis HLB column, eluted with 30:70 AcN:water and again lyophilized overnight. Specimens are resuspended in 50:50 methanol:water, mixed 1:1 with a matrix solution containing 2,5-dihydroxybenzoic acid, spotted onto a MALDI plate and allowed to air dry. The plate is then analyzed using a MALDI TOF/TOF 5800 Analyzer.(Xia B, Asif G, Arthur L, et al: Oligosaccharide analysis in urine by MALDI-TOF mass spectrometry for the diagnosis of lysosomal storage diseases. Clin Chem 2013 Sep;59[9]:1357-1368)

Analytic Time

14 days

Specimen Retention Time

1 month

Forms

Biochemical Genetics Patient Information (T602) in Special Instructions