By Diagnostics World Staff
April 3, 2017 | Invitae has announced a major expansion of its genetic testing services with the introduction of exome sequencing and interpretation services, bringing the company's available test menu to more than 20,000 genes. The Invitae Boosted Exome offers high-quality testing tailored to each patient's unique clinical situation. Exome testing can help clinicians make or confirm a diagnosis and develop an appropriate medical management plan, which is especially important in pediatric and rare disorders for which early diagnosis is essential.
“Pediatric rare diseases are especially challenging to diagnose and exome testing plays a critical role,” wrote Laurie Demmer, medical geneticist at Levine Children's Specialty Center in Charlotte, NC. “Affordable exome analysis supported by sophisticated informatics can help clinicians shorten the diagnostic odyssey and provide answers for their patients.”
Invitae's exome services provide a customized, in-depth analysis of the human exome that integrates knowledge of a patient's clinical history and presentation with the variants found in their DNA. Results are provided by a team of board-certified molecular geneticists and cytogeneticists with experience in clinical exome and genome sequencing.
Features of the test include a highly advanced next-generation sequencing (NGS) capture technology with boosted coverage of medically relevant genes; custom-built bioinformatics solutions to support variant analysis; a phenotyping tool that uses a structured phenotype ontology to generate a list of relevant genes to be prioritized in the analysis; in addition, there is an option for the ordering provider to add additional genes to the list created by the phenotyping tool; analytical solutions to identify other relevant genes through inheritance patterns or impact on gene function; expert interpretation from a team of board-certified geneticists via clearly explained reports; clinical consultation for providers and genetic counseling services for patients are available throughout the process; an average turnaround time of 6-8 weeks; and very attractive pricing compared to the rest of the industry.