Retinitis Pigmentosa Panel
Use
This test is for individuals with relevant clinical features who have a diagnosed or suspected case of retinitis pigmentosa. It is also suitable for people with a family history of retinitis pigmentosa manifesting in autosomal dominant, autosomal recessive, or X-linked patterns. The panel aids in identifying genetic mutations responsible for the condition, thus helping in patient diagnosis, management, and family planning.
Special Instructions
Not provided.
Limitations
The performance characteristics of this test have been validated according to CAP and CLIA standards but have not been cleared or approved by the FDA. Detection limits depend on the genetic region and depth of coverage, and not all mutations may be detected. Accurate interpretation requires quality clinical information, including family history and detailed clinical notes.
New York Approved
Methodology
NGS (Targeted)
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