Optic Atrophy and Neuropathy Panel
Use
This test is intended for individuals with features indicative of hereditary optic neuropathy. It assists in confirming a clinical or suspected diagnosis by analyzing genetic variants associated with optic atrophy and neuropathy, facilitating better patient management and informed decision-making for affected individuals.
Special Instructions
The test utilizes NGS with CNV capabilities on either the Exome or Genome platforms to deliver comprehensive genetic analysis. It's essential to indicate if STAT testing is required to expedite the process, especially in urgent diagnostic scenarios.
Limitations
While the panel analyzes 70 genes related to optic atrophy and neuropathy, certain technical limitations are inherent to NGS technologies. These include potential issues with detecting low-frequency variants, very large insertions/deletions, and certain regions with high GC content. Not all covered regions may have uniform coverage leading to potential false negatives in poorly covered areas.
New York Approved
Methodology
NGS (CGP)
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