Test ID: OLIGO
Oligosaccharide Screen, Urine
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Screening for possible oligosaccharidoses
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
This is a screening method and detects only a few of the oligosaccharidoses. Sialidosis and mucolipidosis II and III are not reliably detected. Enzyme analysis is required to confirm abnormal urine oligosaccharide results.
Method Name A short description of the method used to perform the test
Thin-Layer Chromatography (TLC)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Alpha-Mannosidosis
Alpha-N-Acetylgalactosaminidase Deficiency
Aspartylglycosaminuria
Beta-Mannosidosis
Galactosialidosis
Gaucher Disease
Glycogen Storage Disease Type II (GSD II)
GM1 gangliosidosis
GM2 gangliosidosis
GSD II (Glycogen Storage Disease Type II)
I-Cell Disease
Mucolipidosis II
Mucolipidosis III
Pompe Disease
Psuedo-Hurler Polydystrophy
Sandhoff Disease
Schindler Disease
Sialidosis
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Container/Tube: Plastic, 10-mL urine tube (Supply T068)
Specimen Volume: 3 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative.
3. Immediately freeze specimen.
Additional Information:
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Forms: If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Urine | Frozen (preferred) | 35 days |
| Ambient | 7 days | |
| Refrigerated | 7 days |
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Oligosaccharides (carbohydrate compounds) are routinely excreted in the urine. There is an increased accumulation of oligosaccharides in the urine of individuals with the any of the mucolipidoses and certain glycoprotein storage disorders. Glycoprotein storage disorders are caused by deficiencies of enzymes required for the degradation of oligosaccharide chains (see table below).
Oligosaccharidoses often clinically resemble mucopolysaccharidoses. Patient presentations range from almost normal to a variety of clinical symptoms which may include coarse facial features, bone and joint dysplasia, hepatosplenomegaly, and mental regression. Oligosaccharides are not detectable in all patients with oligosaccharidoses. Oligosaccharides are excreted in low levels in some disorders.Patients with alpha-mannosidosis, alpha-fucosidosis, and aspartylglucosaminuria may have very subtle excretions, where as patients with beta-mannosidosis, mucolipidosis II, and mucolipidosis III generally do not have detectable oligosaccharides in urine. In addition, a false-negative result can be observed when a urine specimen is particularly dilute. Pompe disease (a glycogen storage disease), Gaucher disease (a lysosomal storage disease), and Sandhoff disease (a sphingolipidosis) are other conditions which may yield a positive urine oligosaccharide result. Correlation of clinical presentation with oligosaccharide result and confirmatory testing is strongly recommended.
Excretion of Oligosaccharides in Oligosaccharidoses and Other Disorders
| Disorder | Defective enzyme | Urine Oligosaccharide Excretion |
| Alpha-mannosidosis | Alpha-mannosidase | + |
| Alpha-fucosidosis | Alpha-fucosidase | + |
| Sialidosis | Alpha-neuraminidase |
|
| Galactosialidosis | Beta-galactosidase and neuraminidase |
|
| Aspartylglucosaminuria | Aspartylglycosaminidase | + |
| Schindler disease | Alpha-N-acetylgalactosaminidase |
|
| Mucolipidosis III (pseudo-Hurler polydystrophy) | N-acetylglycosamine-1-phosphotransferase | - |
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation Provides information to assist in interpretation of the test results
This is a screening test; not all oligosaccharidoses are detected. The resulting thin-layer chromatography pattern may be characteristic of a specific disorder; however, abnormal results require confirmation by enzyme assay.
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 biochemical testing, and in vitro confirmatory studies (enzyme assay, molecular genetic analysis).
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
The test can give false-negative results, especially in older patients with mild clinical presentations. Patients with sialidosis or mucolipidosis II or III are not reliably detected.
In infants, many oligosaccharide bands are often detected and the clinical significance of the results may be uncertain. Retesting between the ages of 6 months to 1 year is recommended.
Enzyme analysis is required to confirm suspected diagnosis.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
Beck M: Mucopolysaccharidoses and oligosaccharidoses. In Inborn Metabolic Diseases. Third edition. Edited by J Fernandes, JM Saudubray, G von den Berghe. Berlin, NY, Springer-Verlag, 2000, pp 413-421
Method Description Describes how the test is performed and provides a method-specific reference
Untreated urine is spotted on a silica gel thin-layer plate and developed overnight with a butanol:glacial acetic acid:water solvent. The sugars are located with heat and an orcinol spray reagent.(Sewell AC: An improved thin-layer chromatographic method for urinary oligosaccharide screening. Clin Chim Acta 1979 Mar 15;92[3]:411-414; Humbel R, Collart M: Oligosaccharides in urine of patients with glycoprotein storage diseases. Rapid detection by thin-layer chromatography. Clin Chim Acta 1975 Apr 16;60[2]:143-145)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday, Wednesday; 9 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
84376
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 84340 | Oligosaccharide Screen, U | 33875-6 |
External
link
PDF
document
Excel
document
Word
document