At Invitae, intragenic deletions and duplications (del/dups), or copy number variants (CNVs), are detected in approximately 10% of individuals with a clinically significant result (i.e., Pathogenic or Likely Pathogenic variants). The fraction of positive individuals with del/dup findings vary by clinical area, ranging from 5% in Cardiology and 7% in Cancer to 39% in Neurology. For the most current data across clinical areas, please see Invitae’s Detecting Deletions and Duplications white paper. Invitae’s experience with NGS-based del/dup detection has also been peer-reviewed and published in this paper. If you would like to discuss estimates specific to your patient’s order, please contact our clinical team.
Articles in this section
- Why are termination codons in the last exon reported as VUS?
- Do you copy or base your interpretations from ClinVar?
- How often are deletions/duplications (CNVs) detected in panel testing?
- Why is this truncation in the second-to-last exon a VUS?
- How does Invitae find and evaluate literature evidence?
- Why is "Invitae" cited as a reference in the report?
- How does Invitae determine which transcript to use?
- How do you know which genes cause which diseases?
- Why do you only need one variant to determine whether a gene causes a specific disease?
- Can Invitae interpret a variant for me?