Septo-optic Dysplasia Spectrum Panel
Use
This test is designed for individuals with clinical or suspected diagnosis of septo-optic dysplasia spectrum and abnormal findings on brain MRI suggesting optic nerve hypoplasia and midline defects. The panel assists in identifying genetic variants associated with septo-optic dysplasia, helping to confirm diagnosis, guide management, and inform family counseling regarding the genetic aspects of the condition.
Special Instructions
The test can be ordered through multiple platforms, offering flexibility in the choice of specimen type including blood, DNA, buccal, saliva, and tissue. STAT testing is available which provides faster turnaround times, although a surcharge applies. Ensure compliance with New York State regulations as indicated on the test requisition form.
Limitations
This test utilizes NGS with CNV analysis and may have limitations related to the sensitivity and specificity of detecting some variants, particularly in regions with high homology, repetitive sequences, or low-complexity regions. The detection of large copy number variations depends on the platform used and may not be as efficient for smaller CNVs. PCR artifacts can potentially lead to false-positive findings, requiring confirmation by alternative methods when necessary. Variants of uncertain significance will require further research to determine their clinical relevance.
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