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Test ID: OLIGU 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, U

Specimen Type


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

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.

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

Clinical Information

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




Enzyme deficiency

Worldwide incidence



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





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.



Infancy to juvenile



<100 patients described


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



Early childhood



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.



Infancy to early childhood



<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)



<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)


Beta-galactosidase (Beta-Gal)



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


Beta-hexosaminidase A and B



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)


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.



Early infancy, late infancy or early adult


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 


GNPTG (gamma)

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



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




N. Ireland


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)





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

An interpretive report will be provided.


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).

Clinical Reference

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:

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:

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

Day(s) Performed


Report Available

8 to 15 days

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 US Food and Drug Administration.

CPT Code Information


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

-Congenital Disorders of Glycosylation: Screening Algorithm.

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: