Branchiootorenal Syndrome Panel
Use
The Branchiootorenal Syndrome Panel is intended for individuals with relevant clinical features or a suspected diagnosis of Branchiootorenal Spectrum Disorder. It helps in confirming the diagnosis by detecting genetic variants associated with the condition. This aids in better management and genetic counseling.
Special Instructions
Ensure that the specimen is collected and shipped as per guidelines to maintain integrity. STAT testing is available, and it reduces the usual turnaround time. Check if exome-wide CNV analysis is needed as an add-on for broader coverage.
Limitations
This test can detect single nucleotide variants, insertions, deletions, and copy number variations within the three genes associated with Branchiootorenal Syndrome. However, it may not detect all possible genetic alterations that could be present, such as those in other genes outside the panel or findings of unknown significance. Exome-wide CNV analysis results may be subject to limitations based on sample quality.
New York Approved
Methodology
NGS
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