Cerebral Cavernous Malformations Panel

Casandra

Casandra Test Code PG52278Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 1943CPT Code 81479

Cerebral Cavernous Malformations Panel

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This panel uses next-generation sequencing (NGS) with CNV analysis to detect pathogenic variants in genes related to cerebral cavernous malformations. The platform used can either be exome or genome-based, depending on the specific ordering option.

NGS with CNV • CGP