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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
Minimum: 2 mL Pediatric urine collected in a urine collection container
10 mL urine collected in a urine collection container, or
Minimum: 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
MALDI-TOF
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
The oligosaccharidoses (glycoproteinoses) are a subset of lysosomal storage disorders 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 is difficult due to the similarity of clinical features across disorders and their variability. 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. This is the recommended test for the initial workup of a suspected oligosaccharidosis disorder. The oligosaccharidosis in this subset of lysosomal storage disorders and detected by this assay are alpha-mannosidosis, beta-mannosidosis, aspartylglucosaminuria, fucosidosis, Schindler disease, GM1 gangliosidosis, Sandhoff disease, sialidosis, galactosialidosis, mucolipidoses types II and III, mucopolysaccharidosis IVB (Morquio B), and Pompe disease.
LYSDU / Lysosomal Storage Disorders Screen, Urine includes analysis of urine oligosaccharides and is the recommended screening test for the initial workup of a suspected lysosomal storage disorder.
LYSDU / Lysosomal Storage Disorders Screen, Urine includes analysis of urine oligosaccharides and is the recommended screening test for the initial workup of a suspected lysosomal storage disorder.
