Forms and Documents
- Determination of a clinical diagnosis
- Identification of gene implicated in genetic disease
- Recurrence risk assessment
The XomeDxXpress test (Trio only) is whole exome sequencing with an expedited turnaround time (TAT) of approximately 2 weeks. A verbal result is given within 7 calendar days after the start of testing and will include pathogenic and/or expected pathogenic variants in known disease-causing genes (Human Genome Mutation Database genes). A written report including all clinically relevant, confirmed variants will be reported within approximately 2 weeks after the start of testing. Because of the rapid TAT, blood or DNA samples on the proband and both biological parents must be submitted at the same time, along with clinical information, in order to begin testing. This test requires approval by GeneDx; please email Xpress@GeneDx.com to discuss prior to sending in samples.
- Next-Gen Sequencing
- Bamshad et al. (2011) Nature Reviews Genetics. 12:745-755
- Green et al. (2013) Genet Med 15:565-57.