Invitae Glaucoma Panel
Use
Genetic testing for genes associated with glaucoma, a condition characterized by optic nerve damage and visual field defects. It may lead to blindness if untreated. This panel allows for the evaluation of multiple genes based on a single clinical indication, aiding in confirming a diagnosis, estimating recurrence risk, and providing genetic counseling. The test includes analysis of genes linked to conditions such as congenital glaucoma, primary open-angle glaucoma, and other anterior segment dysgenesis conditions, which can help in the clinical assessment and management of patients presenting symptoms related to these disorders.
Special Instructions
This test includes full-gene sequencing and deletion/duplication analysis using NGS technology. It evaluates clinically important regions of each gene, including coding exons and adjacent intronic sequences, but does not cover sequence changes in the promoter regions and other non-coding regions unless specified. Any limitations or exclusions are detailed in the test report.
Limitations
This test may not detect structural rearrangements, inversions, gene conversion events, or variants with complex sequence architecture. Single-exon copy number events may also not be analyzed due to sequence properties or data quality issues. The test does not cover all non-coding variants and may have reduced sensitivity for large insertions/deletions or exon-level events. Mosaicism, phasing, or mapping ambiguities may remain unresolved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)