PKD1 has a pseudogene issue that requires special steps to ensure variants we detect are specific to PKD1 (i.e., steps such as those we took for PMS2). We understand it is a critical gene for AD PKD and we are working very hard to offer it with high sensitivity and specificity.
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?