Test Catalog

Test Id : OLIGU

Oligosaccharide Screen, Random, Urine

Useful For
Suggests clinical disorders or settings where the test may be helpful

Screening for selected oligosaccharidosis

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

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

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Oligosaccharide Screen, U

Aliases
Lists additional common names for a test, as an aid in searching

Oligosaccharidosis

Oligosaccharidoses

OLIGO

Alpha-Mannosidosis

Alpha-Fucosidosis

Alpha-N-Acetylgalactosaminidase Deficiency

Aspartylglycosaminuria

Galactosialidosis

GM1 gangliosidosis

GM2 gangliosidosis

I-Cell Disease

Mucolipidosis II

Mucolipidosis III

Pompe Disease

Pseudo-Hurler Polydystrophy

Sandhoff Disease

Schindler Disease

Sialidosis

Beta-Mannosidosis

Mucopolysaccharidosis IVB

Urineoligos

Beta-galactosidase

MOGS-CDG

NGLY1-CDG

CDG IIb

Fucosidosis

Mannosidosis

Urine oligos

Urine oligosaccharides

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

2.5 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

Screening for selected oligosaccharidosis

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The oligosaccharidoses (glycoproteinoses) are a subset of lysosomal storage disorders (LSD) caused by the deficiency of any one of the lysosomal enzymes involved in the degradation of complex oligosaccharide chains. They 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 diagnosis can be difficult due to the similarity of clinical features across disorders and their variable severity. Clinical features can include bone abnormalities, coarse facial features, corneal cloudiness, organomegaly, muscle weakness, hypotonia, developmental delay, and ataxia. Age of onset ranges from early infancy to adult and can even present prenatally.

 

The oligosaccharidoses and other storage disorders detected by this assay include alpha-mannosidosis, beta-mannosidosis, aspartylglucosaminuria, fucosidosis, Schindler disease, GM1 gangliosidosis, Sandhoff disease, sialidosis, galactosialidosis, mucolipidoses types II and III, mucopolysaccharidosis IVA (Morquio A), mucopolysaccharidosis IVB (Morquio B), and Pompe disease (see table). Additional conditions that may be picked up by this test include other mucopolysaccharidoses, Gaucher disease, Krabbe disease, and some congenital disorders of glycosylation (PMM2, NGLY1, MOGS, ALG1, MAN1B1).

 

Conditions identifiable by method

Disorder

Onset

Gene

Enzyme deficiency

Worldwide incidence

 

Alpha-mannosidosis

Prenatal (type III) Infancy (type I) Juvenile/Adult (type II)

MAN2B1

Alpha-mannosidase

1:500,000

 

Phenotype: continuum of clinical features ranging from severe and rapidly progressive disease to a milder and more slowly progressive course. Prenatal onset (type III) manifests as prenatal loss or early death from progressive neurodegeneration. Infantile onset (type I) is characterized by rapidly progressive intellectual disability, hepatosplenomegaly, and severe dysostosis multiplex. Type II is milder and slower progressing with survival into adulthood.

 

Beta-mannosidosis

Infancy to juvenile

MANBA

Beta-mannosidase

<100 patients described

 

Phenotype: clinical features vary in severity and may include intellectual disability, respiratory infections, hearing loss, hypotonia, peripheral neuropathy, and behavioral issues.

 

Aspartylglucosaminuria

Early childhood

AGA

Aspartylglucosaminidase

1:2,000,000 higher incidence in Finland approx 1:17,000

 

Phenotype: normal appearing at birth followed by progressive neurodegeneration at 2-4 years, frequent respiratory infections, coarse features, thick calvarium, and osteoporosis. Slowly progressive mental decline into adulthood.

 

Alpha-fucosidosis

Infancy to early childhood

FUCA1

Alpha-fucosidase

<100 patients described

 

Phenotype: continuum within a wide spectrum of severity; clinical features include neurodegeneration, coarse facial features, growth delay, recurrent infections, dysostosis multiplex, angiokeratoma, and elevated sweat chloride.

 

Schindler disease

Infancy (type I)

 

Early childhood (type III)

Adult (type II)

NAGA

Alpha-N-acetyl-galactosaminidase

<30 patients described

 

Phenotype: continuum of clinical features ranging from severe and rapidly progressive disease to a milder and more slowly progressive course; infantile onset (type I) is characterized by rapidly progressive neurodegeneration. Type II is adult onset characterized by angiokeratoma and mild cognitive impairment, and type III is an intermediate and variable form ranging from seizures and psychomotor delay to milder autistic features.

 

GM1 gangliosidosis

Infancy (type I)

 

Late infantile/juvenile (type II)

Adult (type III)

GLB1

Beta-galactosidase (Beta-Gal)

1:200,000

 

Phenotype: continuum of clinical features ranging from severe and rapidly progressive disease to a milder and more slowly progressive course; infantile onset (type I) is characterized by early developmental delay/arrest followed by progressive neurodegeneration, skeletal dysplasia, facial coarseness, hepatosplenomegaly, and macular cherry red spot. Later onset forms (types II and III) are milder and observed as progressive neurologic disease and vertebral dysplasia. Adult onset presents mainly with dystonia.

 

GM2 gangliosidosis variant 0

(Sandhoff disease)

Early infancy to juvenile or adult

HEXB

Beta-hexosaminidase A and B

1:400,000

 

Phenotype: infantile onset is characterized by rapidly progressive neurodegeneration, exaggerated startle reflex, "cherry red spot". Milder later-adult onset forms of the disease exist presenting with neurological problems such as ataxia, dystonia, spinocerebellar degeneration, and behavior changes.

 

Sialidosis (ML I)

Early adulthood (type I)

Earlier for congenital, infantile, and juvenile forms (type II)

NEU1

Alpha-neuraminidase (Neu)

<30 patients described

 

Phenotype: continuum of clinical features ranging from severe disease (type II) to a milder and more slowly progressive course (type I). Clinical features range from early developmental delay, coarse facial features, short stature, dysostosis multiplex, and hepatosplenomegaly to late onset cherry-red spot myoclonus syndrome. Seizures, hyperreflexia, and ataxia have been reported in more than 50% of later onset patients. A congenital form of the disease has been reported in which patients present with fetal hydrops or neonatal ascites.

 

Galactosialidosis

Early infancy, late infancy or early adult

CTSA

Cathepsin A causing secondary deficiencies in Beta-Gal and Neu

<30 patients described

 

Phenotype: continuum of clinical features ranging from severe and rapidly progressive disease to a milder and more slowly progressive course; clinical features of the early infantile type include fetal hydrops, edema, ascites, visceromegaly, dysostosis multiplex, coarse facies, and cherry red spot. The majority of patients have milder presentations, which include ataxia, myoclonus, angiokeratoma, cognitive and neurologic decline.

 

Mucolipidosis II-alpha/-beta (I-cell)

Mucolipidosis III-alpha/-beta and III-gamma (pseudo-Hurler Polydystrophy)

Early infancy

 

Early childhood, may live well into adulthood 

GNPTAB(alpha/beta)

GNPTG (gamma)

N-acetylglucosaminyl-1-phosphotransferase deficiency causing secondary intracellular deficiency of multiple enzyme activities

1:300,000

 

Phenotype: I-cell resembles Hurler with short stature and skeletal anomalies, but presents earlier, is more severe, and can include cardiomyopathy and coronary artery disease. Pseudo-Hurler polydystrophy is milder and later presenting.

 

Mucopolysaccharidosis IVB (Morquio B)

Infancy to adult

GLB1

Beta-Gal

1:75,000

N. Ireland

1:640,000

W. Australia

 

Phenotype: progressive condition that largely affects the skeletal system. Features include short-trunk dwarfism, skeletal (spondyloepiphyseal) dysplasia, fine corneal deposits, and preservation of intelligence.

 

Pompe disease (glycogen storage disease type II)

Early infancy

Late onset (childhood-adult)

GAA

Alpha-glucosidase

1:40,000

 

Phenotype: infantile onset is characterized by prominent cardiomegaly, hepatomegaly, hypotonia, and weakness. Later onset forms present with proximal muscle weakness and respiratory insufficiency.

 

 

 

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 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
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

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

 

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

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Neufeld EF, Muenzer J: The mucopolysaccharidoses. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed August 4, 2021. Available at: http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225544161

2. Thomas GH: Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed August 04, 2021. Available at: https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225545029

3. Enns GM, Steiner RD, Cowan TM: Lysosomal disorders. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. McGraw Hill Medical; 2009

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

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 Sep;59[9]:1357-1368)

 

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

8 to 15 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 month

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

84377

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
OLIGU Oligosaccharide Screen, U 49284-3
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
64889 Oligosaccharide Screen, U 49284-3

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports