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Providing the Most Comprehensive Genomic Insights with One Test: Whole Genome Sequencing

Benefits of Whole Genome Sequencing

Whole genome sequencing is the most efficient, accurate, and actionable test to end a diagnostic odyssey, or prevent it from even beginning.

Whole genome sequencing (WGS), also called genome testing, examines a person’s entire genome, including the protein-coding regions (called exons) and the non-coding regions (called introns). As a result, it is the most comprehensive genetic testing option available and enables the greatest chance of uncovering a genetic diagnosis.

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 the 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.

Explore Genome Test Options

GeneDx Genome Products

Genome testing is ideal for determining a clinical diagnosis, identifying genes implicated in genetic disease, and assisting with risk assessment for relatives.

GenomeSeqDx

Sequences an individual’s nuclear genome and includes evaluation and analysis of both the protein-coding and non-coding regions.  

Additional test information:

  • One-time reanalysis included at no additional charge. (We generally recommend ordering reanalysis when new clinical indications develop or at least 18-24 months after the return of the original results.)
  • Includes testing for congenital myotonic dystrophy (DMPK) and fragile X syndrome (FMR1) due to repeat expansions
  • Includes mitochondrial genome sequencing and deletion analysis

Test codes:
J774a (Trio)
J774e (Duo)
J774b (Proband)

Proband/patient sample requirements:
Blood (2-5mL in EDTA, lavender top, tube) 

Parent/relative sample requirements:
Blood (2-5mL in EDTA, lavender top, tube) or
Buccal (2 swabs)

Turnaround time (TAT)*
4 weeks
Mitochondrial genome test written report within 3-4 weeks

GenomeXpress®

Includes all the benefits of GenomeSeqDx testing, but with a rapid turnaround time.   

Additional test information:

  • One-time reanalysis included at no additional charge. (We generally recommend ordering reanalysis when new clinical indications develop or at least 18-24 months after the return of the original results.)
  • Includes testing for congenital myotonic dystrophy (DMPK) and fragile X syndrome (FMR1) due to repeat expansions
  • Includes mitochondrial genome sequencing and deletion analysis

Test codes:
TH78a (Trio)
TH78e (Duo)
TH78b (Proband)

Proband/patient sample requirements:
Blood (2-5mL in EDTA, lavender top, tube) 

Parent/relative sample requirements:
Blood (2-5mL in EDTA, lavender top, tube) or
Buccal (2 swabs)

Turnaround time (TAT)*
Provisional results within 5-7 days
Written report within 14 days
Mitochondrial genome test written report within 3-4 weeks

*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.

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Support for Consenting Your Patients

Obtaining patient informed consent and ensuring they understand what to expect with a comprehensive genetic test, like whole exome sequencing, can seem like an intricate process. Our patient consent video below provides an overview of what to expect with exome and genome testing and can help support you throughout the genetic testing process.

The GeneDx Difference

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. 

What’s more:

  • For more than 20 years, we’ve been the trusted experts in delivering genomic health insights
  • We have extensive experience with repeat expansion disorders
  • 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.
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References

  1. 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.
  2. 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
  3. 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
  4. 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.
  5. 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