Comprehensive Vitreoretinopathy Panel
Use
This test is designed for individuals presenting with clinical features or a suspected diagnosis of Familial Exudative Vitreoretinopathy (FEVR). It aims to identify genetic aberrations linked to vitreoretinopathies which could aid in confirming the diagnosis, understanding the genetic basis of the disease, and guiding future management and genetic counseling.
Special Instructions
Testing options include the Exome or Genome platform with additional analysis for CNV. STAT testing is available and affects turnaround time. Institutional pricing is accessed through sign-in. Additional tests can be explored after receiving the initial report, offering broader insights.
Limitations
The test is limited to the analysis of the specified 21 genes. Variants outside this gene set will not be detected. The test is further limited by the quality of the specimen provided, potential for sample mishandling, and inherent limitations of the NGS technology used for mutation detection. The interpretation is contingent on detailed clinical information, and absence of a detected mutation does not exclude the diagnosis.
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