Background:
Whole Exome Sequencing (WES) can identify many variants, and our understanding of those variants can change and evolve over time, with advances in classification algorithms, literature knowledge etc. Additionally, with time, a patient may present with new features, disease severity, and/or family history may change. For this reason, WES reanalysis can be requested by a patient’s healthcare provider.
(Note, this is a comprehensive reanalysis of all data, not an individual variant. Analysis of an individual variant may be requested directly from the Knight Diagnostic Laboratories (KDL). Also, please note that there may be some instances where re-testing may be preferred over reanalysis, for instance if there has been a significant time lapse, Deignan et al. 2019.)
At this time, WES reanalysis can only be requested when the original testing was performed at the KDL. Reanalysis may be requested at any time; however, we recommend waiting at least 12 months after the original results are reported before requesting reanalysis for maximum benefit. Requests made less than 12 months after the original report may be performed if there has been a significant change in clinical presentation/phenotype, or there exists compelling scientific evidence for reanalysis.
(Please note, per current KDL protocol, all VUS findings are automatically reviewed annually and result in an amended report should classification change.)
For reanalysis, WES data at KDL will be subject to a phenotype-driven approach based on updated genetic findings and any new clinical phenotype information provided. Please note, reanalysis may result in previously-reported variants being reclassified. A new report will not be issued; rather, the patient’s original report at KDL will be amended.
NGS variants detected through reanalysis may need additional confirmation using Sanger sequencing and the patient and/or family member may need to be contacted for additional material.
Pre- and post-test genetic counseling is strongly recommended.
Reasons for Referral:
• Previous non-diagnostic exome sequencing at KDL.
Methodology:
Specimen Requirements:
Test Performed (Days):
Turn Around Time:
8 - 10 weeks
Shipment Sensitivity Requirements:
References:
- Deignan et al. 2019 Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2019;21:1267-1270.
Additional Info:
Documents Needed: A reanalysis requisition form must be completed and returned to KDL including the information of the original Exome order and the patient’s updated clinical phenotype information, if indicated.
Reanalysis Requisition Form