Invitae Hereditary Cerebral Small Vessel Disease Panel

Casandra

Casandra Test Code IN53701Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 53701

Invitae Hereditary Cerebral Small Vessel Disease Panel

Clinical Use

Use

The Invitae Hereditary Cerebral Small Vessel Disease Panel analyzes genes associated with hereditary forms of cerebral small vessel disease. This panel aids in confirming clinical diagnosis, predicting disease prognosis and progression, facilitating early detection of symptoms, informing family planning and genetic counseling, or promoting enrollment in clinical trials. It is an effective tool given the genetic heterogeneity and clinical overlap of cerebral small vessel diseases, allowing for efficient evaluation of several potential genes based on a single clinical indication.

Special Instructions

Ordering the panel is not recommended for individuals under the age of 18 who have no personal history of stroke or neurodegenerative disease. The test includes certain genes linked to increased risk of neurodegenerative conditions without known treatment or cure. Broad testing encompasses genes based on evidence related to cerebral small vessel disease, but does not include genes linked to large artery disease, prothrombotic states, embolic strokes, cerebrovascular malformations, or mitochondrial disorders with stroke-like episodes.

Limitations

The panel covers clinically important regions of each gene evidenced by >99% analytical sensitivity and specificity for single nucleotide variants, small insertions and deletions, and exon-level deletions/duplications. However, sensitivity for larger insertions/deletions may be slightly reduced. Structural rearrangements, variants within complex sequence architectures, or sequences with mapping ambiguity may not be detected. Single-exon copy number changes may not be analyzed in rare cases due to sequence properties or data quality reductions. The report includes middle of exon variations and may not cover promoter regions or non-coding exons.

Test Details

New York Approved