Quest Exome with CNV Evaluation helps to improve disease diagnosis, monitoring, and treatment of rare disorders. Exome with CNV Evaluation is used when the conditions are so rare no diagnostic tests exist, targeted testing is impractical, or definitive tests are unavailable or non-informative. This genetic testing portfolio includes Proband, Duo, Trio, and Reanalysis.
Our test delivers exome sequencing with a mean read depth of 126X, a validated CNV evaluation, and mitochondrial genome results with a mean read depth of 550X. The exome provides a coverage of 99.6% at 20X. These leading metrics come with the added benefit of having both CNV analysis and mitochondrial genome sequencing included.
Quest Exome with CNV Evaluation can help:
- Shorten a long, frustrating, costly diagnostic journey for adult and pediatric patients
- Provide a genetic diagnosis
- Lower costs for physicians and patients1
Quest Exome with CNV Evaluation includes: