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Test ID OLIGU Oligosaccharide Screen, Urine

Useful For

Screening for possible oligosaccharidoses

Highlights

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.

Method Name

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

Reporting Name

Oligosaccharide Screen, U

Specimen Type

Urine


Advisory Information


This is the recommended test for the initial workup of a suspected oligosaccharidosis disorder.

 

LYSDU / Lysosomal Storage Disorders Screen, Urine is the recommended screening test for the initial workup of a suspected lysosomal storage disorder.



Necessary Information


1. Patient's age is required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.



Specimen Required


Supplies: Urine Tubes, 10 mL (T068)

Collection Container/Tube: Plastic, 10-mL urine tube (T068)

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
Urine Frozen (preferred) 365 days
  Refrigerated  15 days
  Ambient  7 days

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Varies

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 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

Testing Algorithm

See Newborn Screen Follow-up for Pompe Disease in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Pompe Disease: Decreased Acid Alpha-Glucosidase in Special Instructions.

Forms

Biochemical Genetics Patient Information (T602) in Special Instructions