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 support@genedx.com to determine how to proceed.
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.
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:
*When biological parents are not available, other relative samples can be used for trio testing.
XomeDx analyzes each patient’s unique clinical and genomic information to provide clear, targeted, relevant reports.
Turnaround time*:
6 weeks
Test codes:
561a (Trio)
561e (Duo)
561b (Proband)
This is our rapid testing option. Ideal for critically ill babies in the NICU.
Turnaround time*:
Verbal results: within 7 days
Full written report: within 2 weeks
Test codes:
896 (Trio)
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 time*:
6 weeks
Test codes:
690a (Trio)
690e (Duo)
690b (Proband)
*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.
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.
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