Inherited Retinal Dystrophies Panel
Use
This panel is designed for individuals who present clinical features indicative of inherited retinal dystrophies or have a suspected diagnosis. It is suitable for those with non-syndromic retinal dystrophy or part of a syndromic presentation that includes retinal degeneration. The comprehensive genetic analysis can help identify causative genetic mutations, thereby assisting in diagnosis, prognosis, and potential therapeutic considerations.
Special Instructions
This test uses NGS with CNV on either an exome or genome platform. There are options for additional exome-wide CNV analysis and STAT testing, though each adds a cost and adjusts turnaround time. Orders necessitate coordination with PreventionGenetics and might need additional forms if using the offline requisition method.
Limitations
Though the Inherited Retinal Dystrophies Panel analyzes a wide array of genes, there may still be rare mutations or regions that are not covered adequately by the sequencing methods. Due to technical limitations, it might not detect mutations in complex genomic regions, such as structural variants outside CNVs, homopolymeric regions, or other mutations that require specialized testing approaches. Additionally, not all variants have established clinical significance, so interpretation depends on available clinical data.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided