Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel
Use
This test is designed for individuals who exhibit features indicative of chronic progressive external ophthalmoplegia or have a clinical or suspected diagnosis. It is particularly useful for individuals with adult-onset symptoms occurring between the ages of 20 and 40 years. The panel includes analysis of 13 genes known to be associated with this condition.
Special Instructions
The test comes with the option for exome-wide copy number variation (CNV) analysis as an add-on. This service is available in tandem with a PGxome-based panel or a custom panel. STAT testing is available with a surcharge and will not apply if the report is delayed beyond 16 days with a submitted blood sample.
Limitations
The test is not cleared or approved by the US Food and Drug Administration (FDA). While extensive, this panel does not cover every possible genetic cause of chronic progressive external ophthalmoplegia. Results are highly dependent on the clinical information provided and the quality of the sample submitted.
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