Cerebral Small Vessel Disease Panel

Casandra

Casandra Test Code PG38497Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 12637CPT Code 81479

Cerebral Small Vessel Disease Panel

Clinical Use

Use

This test is designed for individuals who have clinical features or a suspected diagnosis of cerebral small vessel disease. It is particularly useful for those with a family history of the condition but without previous genetic testing. Identification of genetic mutations associated with cerebral small vessel disease can provide insights into disease pathogenesis and help guide clinical management decisions.

Special Instructions

This test employs NGS with CNV on either the Exome or Genome platform. It includes an explicit list of 10 genes relevant for cerebral small vessel disease analysis. Care must be taken to appropriately choose between the platforms based on the patient's specific clinical needs and prior genetic evaluations.

Limitations

The test may not detect all genetic alterations that contribute to cerebral small vessel disease due to limitations inherent in the exome or genome sequencing platforms, including regions of low coverage or complex rearrangements. Variants outside the targeted exonic regions and known CNVs may not be identified, and the platform may miss mosaicism or mutations in regulatory regions outside of well-characterized hotspots.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The Cerebral Small Vessel Disease Panel utilizes Next Generation Sequencing with CNV detection to evaluate 10 genes associated with cerebral small vessel disease. This comprehensive genomic profiling ensures accurate variant calling and CNV detection for improved diagnostic insights.

NGS with CNV Detection • CGP