Just as a patient’s clinical presentation may change and evolve over time, so does our understanding of the genetics that underly hereditary disease.

For this reason, Blueprint Genetics offers variant reevaluation, a process that reviews a previously reported variant to determine whether there is any new evidence available that might change its original classification.

The Blueprint Genetics Variant Reevaluation Service:

• Revisits the evidence supporting the classification of pathogenic (P), likely pathogenic (LP), and variants of uncertain significance (VUS) variants that have been reported from a previous whole exome sequencing (WES), panel, single gene, or variant specific tests
• Is performed only for those variants that have been described and interpreted on a diagnostic test report
• Can be requested 12 months after the results are reported, or sooner if compelling evidence (family member testing, new publications, etc) is available

How to order:

1) Contact support@blueprintgenetics.com via email requesting WES re-evaluation and include the Order ID

2) Specify the variant(s) that are to be reevaluated. Please include the variant information from the previous report, including gene(s), variant nomenclature, and/or position

3) Include up-to-date clinical and/or family history information if applicable. Alternatively, indicate if there is no change to the history. A detailed description of the patient’s phenotype gives us the best chance for reclassification of the variant in question. Note: Do not include any identifiable information about your patient.

Once the re-evaluation is complete, an addendum report will be available in Nucleus if there is a change to the reclassification.

If there is no change to the classification, no addendum report will be issued. You will receive notification by email that the reevaluation is complete and that there has been no change to the variant classification.

The turnaround time for the variant reevaluation is 4 weeks (28 calendar days) from the time the request and updated clinical information is received.

Contact information:

Blueprint Genetics

support@blueprintgenetics.com

Fax: +358 9 8565 7177

Please note that the reevaluation service as it is described here may be subject to changes and revisions.

We also provide WES Reanalysis service, a process by which the sample from a previous WES order is re-sequenced and analyzed, in its entirety, to look for new, clinically relevant variants that may explain or contribute to your patient’s diagnosis. To learn more, click here.