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.
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.
Genome testing is ideal for determining a clinical diagnosis, identifying genes implicated in genetic disease, and assisting with risk assessment for relatives.
Sequences an individual’s nuclear genome and includes evaluation and analysis of both the protein-coding and non-coding regions.
Test code:
J774
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
Includes all the benefits of GenomeSeqDx testing, but with a rapid turnaround time.
Test code:
TH78
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.
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.
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:
References