In order to ensure 2023 billing, testing must be activated before the end of the year, or within 30 days of proband sample collection (if sample was collected in 2023). For Exome, Genome, or Xpanded testing, if you do not expect parental samples to be received in time for testing to be activated with 2023 billing, please contact us at firstname.lastname@example.org to determine how to proceed.
Higher Diagnostic Yield. More Clinically Actionable Results. Start with Exome.
Benefits of Whole Exome Sequencing
Comprehensive evaluations. Clearer insights.
Whole exome sequencing (WES), also called exome testing, targets the protein-coding regions of approximately 20,000 genes, which can provide more comprehensive insights than other testing modalities such as chromosomal microarray (CMA) and panel testing.
The Power of the Trio
When both biological parents* include samples along with the patient, this is known as “trio” testing. Leveraging this additional data, trio testing can improve genetic data interpretation, contribute to a faster, clearer diagnosis, and reduces the need for subsequent genetic testing. Trios have been demonstrated to:
Increase diagnostic yield by 7-15%1-4
Decrease the variant of uncertain significance (VUS) rates (18.9%, vs. 27.6%)5
*When biological parents are not available, other relative samples can be used for trio testing.
Non-trios must be approved by GeneDx prior to samples arriving for Xpress testing.
This option combines exome sequencing and mitochondrial genome sequencing and deletion testing under a single test code. Best suited for individuals with clinical features suggesting a mitochondrial disorder.
*Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.
Support for Consenting Your Patients
Obtaining patient informed consent and ensuring they understand what to expect with a comprehensive genetic test, like whole genome sequencing, can seem like an intricate process. Our patient consent video below can help support you throughout this process and provide an overview of what to expect with exome and genome testing.
GeneDx has sequenced more than 500,000 clinical exomes and genomes and over 100,000 mitochondrial genomes, allowing us to build one of the largest and most sophisticated proprietary genomic datasets. This enables us to deliver more definitive answers and clinically actionable results faster.
For more than 20 years, we’ve been the trusted experts in delivering genomic health insights
You and your patients have access to our dedicated team of genetic experts to assist every step of the way
We also recognize that our understanding of genetic information changes over time. That’s why we offer a one-time no-charge reanalysis.
Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero-Rivera, F., Das, K., Toy, T., Harry, B., Yourshaw, M., Fox, M., Fogel, B. L., Martinez-Agosto, J. A., Wong, D. A., Chang, V. Y., Shieh, P. B., Palmer, C. G., Dipple, K. M., Grody, W. W., . . . Nelson, S. F. (2014). Clinical exome sequencing for genetic identification of rare Mendelian disorders. Jama, 312(18), 1880-1887. https://doi.org/10.1001/jama.2014.14604
Farwell, K. D., Shahmirzadi, L., El-Khechen, D., Powis, Z., Chao, E. C., Tippin Davis, B., Baxter, R. M., Zeng, W., Mroske, C., Parra, M. C., Gandomi, S. K., Lu, I., Li, X., Lu, H., Lu, H.M., Salvador, D., Ruble, D., Lao, M., Fischbach, S., . . . Tang, S. (2015). Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med, 17(7), 578-586. https://doi.org/10.1038/gim.2014.154
Sawyer, S. L., Hartley, T., Dyment, D. A., Beaulieu, C. L., Schwartzentruber, J., Smith, A., Bedford, H. M., Bernard, G., Bernier, F. P., Brais, B., Bulman, D. E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B. A., Frosk, P., Geraghty, M. T., Gerull, B., Gibson, W., . . . Boycott, K. M. (2016). Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet, 89(3), 275-284.
Rehm H, Alaimo JT, Aradhya S, et al. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. MedRxiv. Preprint. January 10, 2023. Accessed April 28, 2023. doi: 10.1101/2022.09.21.22279949