Oligosaccharides
Label Mnemonic: | OLIGU |
Epic code: | LAB3751 |
Downtime form: | Doctor/Provider Orders - Pathology Core and Specialty Care Nursery |
Commercial Mailout Laboratory
6240-8 RCP
356-8593
6240-8 RCP
356-8593
Specimen(s):
Urine
Minimum:
3 mL urine
Turn Around
Time:
21 days upon receipt at reference laboratory
Comments:
Lysosomal storage disorders are a broad group of diseases composed of
a variety of sub-groups of disorders, such as the
mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses.
A lysosomal storage disease can present in a number of different ways.
Infants or children may have growth failure, developmental regression,
corneal or lens clouding, hepato- and/or splenomegaly, coarsening
facial features and skeletal abnormalities. Some disorders are more
likely to have a neurological presentation or present in adults. While
a diverse group, different storage diseases may have similar clinical
features, thus it may be necessary to measure a number of different
enzyme activities prior to finding the one deficient in a particular
patient.
Please print, complete and submit the GCG Biochemical Diagnostic Request Form to the lab, with the specimen.
Please print, complete and submit the GCG Biochemical Diagnostic Request Form to the lab, with the specimen.
Methodology:
Oligosaccharides are analyzed using liquid chromatography tandem mass
spectrometry (LC-MS/MS).
This new methodology improves the sensitivity and specificity of the test leading to fewer false positives.
This new methodology improves the sensitivity and specificity of the test leading to fewer false positives.
CPT Code:
84376