Invitae Hereditary Cerebral Small Vessel Disease Panel
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
Not provided.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant