Cerebral Cavernous Malformations Panel
Use
This test is intended for individuals with familial cerebral cavernous malformations (CCMs) or those with multiple CCMs detected through brain imaging. It is also applicable for individuals with a single CCM and a family history of the condition. The test helps in diagnosing CCM by analyzing genetic mutations that are known to cause this condition, allowing for a more accurate diagnosis and guiding treatment decisions.
Special Instructions
The test is available in two platform options: Exome or Genome, allowing flexibility based on the clinical scenario. STAT testing is available, and institutional pricing can be accessed by signing in. The test has been developed and validated according to CAP and CLIA regulations, ensuring reliability and accuracy.
Limitations
This test may not detect all genetic causes of cerebral cavernous malformations. It is specifically designed to identify known mutations within the three genes covered by the panel. Rare variants or mutations not covered by the panel may not be detected. Limitations are related to the inherent constraints of NGS technology, including possible sequencing errors and coverage gaps.
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