Invitae has launched an exome sequencing and interpretation service, called the Boosted Exome.
Invitae believes this testing will be particularly useful in diagnosing rare pediatric diseases or providing insights into complex cases where doctors suspect a genetic disease but it's unclear which gene or alteration is involved. According to the company, the test analyzes 3-5 mL whole blood (but can alternatively analyze saliva) and uses next-generation sequencing capture technology with boosted coverage of medically relevant genes.
The exome test, with the capability to analyze up to 20,000 protein coding genes, also uses custom bioinformatics solutions for variant analysis, a phenotyping tool to prioritize relevant genes for analysis, and analytical solutions to identify other genes through inheritance patterns or functional impact. The data are interpreted by board-certified geneticists, and results are returned within six-to-eight weeks.
Parents have access to genetic counseling and doctors can confer with clinical consultants. Proband only exome testing costs $2,500, while additional testing of one or both biological parents brings the cost up to $4,500.