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HelpTest Code LAB1948 Oligosaccharide Screen, Random, Urine
Useful For
Screening for selected oligosaccharidosis
Method Name
Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)
Reporting Name
Oligosaccharide Screen, UClinical System Name: High Resolution Oligosaccharides, Urine
Specimen Type
UrineOrdering Guidance
This is the recommended test when clinical features are suggestive of, or when molecular testing results suggest, an oligosaccharidosis disorder that can be 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) 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)
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 |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Method Description
Urine samples are extracted using Oasis HLB and carbograph columns and lyophilized overnight. Oligosaccharides are permethylated, replacing all hydroxy groups (-OH) with methoxy groups (-OCH3) and esterifies carboxyl groups (-COOH to -COOCH3). After permethylation, the tubes are centrifuged, and the supernatant removed from the sodium hydroxide pellet. The supernatant is quenched, neutralized, extracted onto an Oasis HLB column, eluted, and lyophilized again overnight. Specimens are resuspended, mixed 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 matrix-assisted laser desorption/ionization tandem time-of-flight (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;59[9]:1357-1368, Hall PL, Lam C, Alexander JJ. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab. 2018;124[1]:82-86)
Day(s) Performed
Monday
TAT: 10 - 17 d
Report Available
8 to 15 daysPerforming 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. It 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 |
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
Special Instructions
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Aliases: Alpha-Mannosidosis; Alpha-Fucosidosis; Alpha-N-Acetylgalactosaminidase Deficiency; Aspartylglycosaminuria; Beta-galactosidase; Beta-Mannosidosis; CDG IIb; Galactosialidosis; GM1 gangliosidosis; GM2 gangliosidosis; I-Cell Disease; MOGS-CDG; Mucolipidosis II; Mucolipidosis III; Mucopolysaccharidosis IVB; NGLY1-CDG; Oligosaccharidoses; Oligosaccharidosis; OLIGO; Pompe Disease; Pseudo-Hurler Polydystrophy; Sandhoff Disease; Schindler Disease; Sialidosis; UHiRsOlig; Urineoligos