Random Urine

Yellow top conical tube (no additive)

Preferred Minimum: 3.0 mL from a random urine collection
Abslute Minimum: 1.0 mL from a random urine collection

Note:
1. Include family history, clinical condition (asymptomatic or acute
   episode), diet, and drug therapy information.
2. Patient's age is required.

2 working days upon receipt at reference laboratory

An interpretive report will be provided.

This is a screening method; only a few oligosaccharidoses may be detected. The thin-layer chromatography pattern obtained by this screening test is occasionally characteristic of the specific disorder. However, abnormal results require confirmation by the appropriate enzyme assay.

When abnormal results are detected with characteristic patterns, a detailed interpretation is given, including an overview of the results and of their 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).

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 clinically resemble mucopolysaccharidoses and may present on a spectrum from almost normal to any of the following clinical symptoms: coarse facial features, bone and joint dysplasia, hepatosplenomegaly, and mental regression. Not all oligosaccharidoses have detectable oligosaccharides, depending on the amount excreted in the urine. Patients with alpha-mannosidosis, alpha-fucosidosis, and aspartylglucosaminuria may have very subtle excretions. Patients with beta-mannosidosis, mucolipidosis II, and mucolipidosis III, generally do not have detectable oligosaccharides in urine. Urinary oligosaccharides may also be detected in Pompe disease (a glycogen storage disease), Gaucher disease (a lysosomal storage disease), and Sandhoff disease (a sphingolipidosis). Clinical correlation is strongly recommended.

Disorder                           Defective enzyme
Alpha-mannosidosis                 Alpha-mannosidase
Beta-mannosidosis                  Beta-mannosidase
Alpha-fucosidosis                  Alpha-fucosidase
Sialidosis                         Alpha-neuraminidase
Galactosialidosis                  Beta-galactosidase and neuraminidase
Aspartylglucosaminuria             Aspartylglycosaminidase
Schindler disease                  Alpha-N-acetylgalactosaminidase
Mucolipidosis II (I-cell disease)  N-acetylglycosmaine-1-
                                     phosphotransferase
Mucolipidosis III                  N-acetylglycosmaine-1-
  (pseudo-Hurler polydystrophy)      phosphotransferase

Cautions: 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.

Thin Layer Chromatography (TLC)

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