Lysosomal Disorders Screen, Random, Urine
Use
This test is used for screening patients suspected of having a lysosomal disorder. It involves a broad array of lysosomal and related disorders but not all can be detected by this method. This screening is an initial step in diagnosing lysosomal disorders, providing critical insights into any presence of metabolite abnormalities in urine and helping guide further confirmatory testing.
Special Instructions
This test includes a comprehensive analysis of several disease markers such as ceramide trihexosides, mucopolysaccharides, oligosaccharides, sulfatides, and sialic acids. It is critical to follow the specified specimen collection and handling procedures to ensure the accuracy of the screening results.
Limitations
This screening does not detect all lysosomal disorders and may not provide definitive diagnostic results for all conditions within the lysosomal disorder spectrum. Notably, this test is limited to urine samples which may not represent complete metabolic profiles; hence, further confirmatory testing is often needed. Analytical variations or sample handling issues could impact the test's accuracy.
New York Approved
Methodology
Mass Spectrometry (Other)
Biomarkers
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
20 mL
Minimum Volume
10 mL
Container
Plastic container
Collection Instructions
Collect a random urine sample in a clean plastic container.
Patient Preparation
Collect the urine sample without any special preparation.
Storage Instructions
Store the urine sample refrigerated after collection. Do not freeze.
Causes for Rejection
Urine samples that are frozen, not properly labeled, or not reconstructed properly will be rejected.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Indefinitely |