ExomeDx by WGS Trio
Use
This test is intended for diagnostic evaluation via whole exome sequencing performed on a trio (proband and both biological parents), enhancing variant interpretation accuracy and reducing variants of uncertain significance through inheritance pattern analysis ([genedx.com](https://www.genedx.com/faqs/uncategorized/whose-specimens-should-be-sent-for-genedx-exome-or-genome-sequencing-and-what-testing-is-performed/?utm_source=openai)).
Special Instructions
Trio specimen submission should include the proband and both biological parents, when available. Relative specimens must be received within three weeks of the patient sample ([genedx.com](https://www.genedx.com/faqs/uncategorized/whose-specimens-should-be-sent-for-genedx-exome-or-genome-sequencing-and-what-testing-is-performed/?utm_source=openai)). Buccal swab is an acceptable non‑invasive sample option for some individuals ([ir.genedx.com](https://ir.genedx.com/news-releases/news-release-details/genedx-adds-buccal-swab-non-invasive-whole-genome-sequencing?utm_source=openai)).
Limitations
Whole exome sequencing may not detect variants outside coding regions or certain structural variants; some findings may remain classified as variants of uncertain significance despite trio analysis; additional testing modalities may be required for non‑exomic or complex genomic alterations ([nymacgenetics.org](https://nymacgenetics.org/wp-content/uploads/2021/04/Patient-Guide-Exome-Sequencing-200126-pdf.pdf?utm_source=openai)).
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit samples from proband plus both biological parents.
Other tests from different labs that may be relevant