26456 Oligosaccharide Screen, Random, Urine (OLIGU)

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

Screening for selected oligosaccharidosis.

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.

1. Collect a random urine specimen.

2. No preservative

3. Immediately freeze specimen.

Necessary Information

1. Patient's age is required.

2. Biochemical Genetics Patient Information (T602)

Biochemical Genetics Patient Information (T602) is recommended. This information aids in providing a more thorough interpretation of results. Send information with specimen.

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

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.

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).

Genetics Test Information:

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.

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).