Optic Atrophy and Neuropathy Panel

Casandra

Casandra Test Code PG88172Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10331CPT Code 81479

Optic Atrophy and Neuropathy Panel

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This component involves next-generation sequencing combined with copy number variation analysis using either Exome or Genome platforms, covering 70 genes associated with optic atrophy and neuropathy.

NGS with CNV Analysis • CGP