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Oligosaccharide Screen, Urine
Test Code19591
CPT Codes
84377<br /> Restricted Client Code
Preferred Specimen
8 mL urine collected in a preservative-free plastic container, or
10 mL urine collected in a urine collection container, or
2 mL pediatric urine collected in a urine collection container
10 mL urine collected in a urine collection container, or
2 mL pediatric urine collected in a urine collection container
Minimum Volume
2.5 mL urine • 2 mL pediatric urine
Instructions
1.) Collect a random urine specimen.
2.) No preservative.
3.) Immediately freeze specimen.
Forms:
1.) Biochemical Genetics Patient Information (T602) in Special Instructions from Mayo site
2.) If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen, from Mayo site
Necessary Information:
1.) Patient's age is required.
2.) Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information
2.) No preservative.
3.) Immediately freeze specimen.
Forms:
1.) Biochemical Genetics Patient Information (T602) in Special Instructions from Mayo site
2.) If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen, from Mayo site
Necessary Information:
1.) Patient's age is required.
2.) Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information
Transport Container
Urine collection container
Transport Temperature
Frozen
Specimen Stability
Room temperature: 7 days
Refrigerated: 15 days
Frozen: 1 year
Refrigerated: 15 days
Frozen: 1 year
Methodology
Thin-Layer Chromatography (TLC)
FDA Status
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 U.S. Food and Drug Administration.
Setup Schedule
Set up: Varies; Report available: 8-15 days
Reference Range
Interpretive report
Clinical Significance
Oligosaccharides are low molecular-weight carbohydrate chains composed of at least 3 monosaccharide subunits. They may be covalently coupled to a protein moiety, in which case they are called glycoproteins. The majority of secreted or membrane-associated proteins, along with numerous intracellular proteins, are glycosylated. They are widely distributed and perform a variety of functions. For example, many enzymes and hormones are glycoproteins. A great variety of oligosaccharide chains may be attached to the protein backbone.
Deficiencies of the enzyme required for the degradation of the oligosaccharide chain cause glycoprotein storage diseases or oligosaccharidoses. Oligosaccharidoses clinically resemble mucopolysaccharidoses, varying from coarse facial features, bone and joint dysplasia, hepatosplenomegaly, and mental regression to an almost normal phenotype, but urinary mucopolysaccharide excretion is normal. In certain glycoprotein storage diseases there is an accumulation of oligosacchharides and excretion of these compounds in the urine. The diseases with abnormal oligosacchariduria include sialidosis, galatosialidosis, GM1 gangliosidosis, GM2 gangliosidosis (type sandhoff), alpha-mannosidosis, beta-mannosidosis, alpha-fucosidosis, and aspartyglycosaminuria. Pathological oligosacchariduria also has been detected in I-cell disease (Mucolipidosis LI), pseudo-hurler polydystrophy (Mucolipidosis III), glycogen storage disease type LI (Pompe Disease), and alpha-n-acetylgalactosaminidase deficiency (Schindler Disease).
Deficiencies of the enzyme required for the degradation of the oligosaccharide chain cause glycoprotein storage diseases or oligosaccharidoses. Oligosaccharidoses clinically resemble mucopolysaccharidoses, varying from coarse facial features, bone and joint dysplasia, hepatosplenomegaly, and mental regression to an almost normal phenotype, but urinary mucopolysaccharide excretion is normal. In certain glycoprotein storage diseases there is an accumulation of oligosacchharides and excretion of these compounds in the urine. The diseases with abnormal oligosacchariduria include sialidosis, galatosialidosis, GM1 gangliosidosis, GM2 gangliosidosis (type sandhoff), alpha-mannosidosis, beta-mannosidosis, alpha-fucosidosis, and aspartyglycosaminuria. Pathological oligosacchariduria also has been detected in I-cell disease (Mucolipidosis LI), pseudo-hurler polydystrophy (Mucolipidosis III), glycogen storage disease type LI (Pompe Disease), and alpha-n-acetylgalactosaminidase deficiency (Schindler Disease).
