Peroxisomal Disorders Panel
Use
This test is designed for individuals with clinical or suspected diagnoses of peroxisomal disorders, those with abnormal newborn screening results suggestive of such disorders, and reproductive partners of individuals with a known pathogenic variant in any peroxisomal disorder gene. It assists in confirming diagnoses and guiding clinical management for these individuals.
Special Instructions
The test can be ordered on different platforms, specifically the Exome Platform and Genome Platform. Specimen requirements vary slightly depending on the platform selected. STAT testing is available with a surcharge and conditions apply if the report is delayed beyond 16 days. The test is developed and validated by PreventionGenetics following CAP and CLIA regulations and performed at their facility in Wisconsin.
Limitations
The test may not detect all genetic variants associated with peroxisomal disorders due to technical limitations, such as GC-rich regions or areas with homologous sequences which NGS technology might not effectively analyze. In addition, the sensitivity for detecting certain variant types, such as large deletions or duplications, might be lower compared to other techniques.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided