X-linked Retinitis Pigmentosa (XLRP) via the RPGR Gene
Use
This test is intended for patients with probable X-linked recessive retinitis pigmentosa (XLRP), cone dystrophy (COD1), or atrophic macular degeneration. It aims to confirm the diagnosis through the analysis of the RPGR gene, which is known to be associated with these conditions.
Special Instructions
This test includes analysis via NGS with CNV using either the Exome or Genome Platform. Ordering requires consideration of the specific platform utilized. STAT testing is available for faster results.
Limitations
This test has not been cleared or approved by the US Food and Drug Administration. Despite the validation under CAP and CLIA regulations, it may not detect all genetic variations related to XLRP. Interpretations are highly dependent on the quality of the clinical information provided. The test is limited to the RPGR gene and may not identify mutations in other related genes.
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided