The Invitae Exome assay is a customized analysis of the human exome based on a combination of the patient’s clinical presentation and the variants found within their exome. Our analysis and interpretation process combines machine learning and automated gene and variant curation with expert evaluation designed for fast, reproducible and accurate exome interpretation.
Exome sequencing can provide a means to determine the diagnosis for patients with complex symptoms or who have undergone other forms of testing with no informative results. Exome sequencing results can directly inform medical treatment, determine recurrence risks for patients and family members and end the need for additional costly or invasive tests and procedures.
Rare and clinically relevant variants
Distinct from panels, exome assays report clinically relevant variants in genes with known gene-disease associations that match the patient’s phenotype and zygosity. In addition, Invitae also reports single pathogenic and likely pathogenic variants in autosomal recessive genes when:
- a strong clinical overlap exists
- the clinical overlap is weaker but treatment is available
- further testing may exclude or include the disorder as a possibility
An unbiased search for answers
The vast majority of known disease-causing DNA changes are found in the exons, which is why the test focuses on these regions. By taking a broad view of a patient’s genetics, we may find one or more changes in the DNA responsible for a condition in the affected individual. If we find what is called a variant of uncertain significance (VUS), we may not find out if the VUS is responsible until more information becomes available in the future. The VUS may be resolved in the future when more information is available. We will not report incidental findings unrelated to the proband’s reason for testing. Secondary findings will only be reported if Invitae’s Secondary Findings Add-on test is ordered. Finally, if we discover that family relationships are not what they appear to be, we do not report or comment.
Accurate, up-to-date and transparent results
Machine learning-powered software weighs clinical and genetic information to identify the variants most relevant to each patient’s case.
Moon ranks potential causative variants based on weighted parameters, including patient phenotype, gene-disease associations, predicted molecular effects and family information.
Moon provides the exome analysis team a weighted list of potential positives sifted from the comprehensive exome sequence data. Those results are clinically evaluated and relevant variants are reported with a full variant description and citations, using our proven variant-interpretation framework, Sherloc1. Learn more
New gene-disease relationships are published continually. Apollo is a machine learning-powered tool that uses natural language processing to perform daily automated literature searches for new gene-disease relationships.
The information gathered is weighted to prioritize the phenotypic features most often observed with the condition and the results are manually curated and annotated by expert scientists and genetic counselors.
This continuously growing knowledge base integrates new scientific insights, enabling an in-depth and up-to-date analysis for every patient. Learn more
Case-level reanalysis is a re-review of all variants in the case, both reported and unreported, in the context of the patient’s phenotype. Currently, routine case-level reanalysis is included in the cost of the test and performed every six months for a minimum of three years. In addition, one-time provider-initiated reanalysis is also available on request.
Invitae’s variant-level re-evaluation occurs when there are known variant upgrades/downgrades or a gene is now considered a disease gene. We flag these cases internally based on changes to a specific variant or gene. Then, we review the corresponding cases and update reports as necessary. Providers must maintain up-to-date contact information with Invitae in case an updated report is issued. Learn more
The Invitae advantage
Quality and expertise
Invitae has comprehensive experience with curation, analysis, and interpretation of variants in over three million patients.
Access and affordability
Intuitive online ordering experience and patient forward billing options make ordering streamlined and affordable.
Re-analysis
Routine case-level reanalysis is included in the cost of the test and performed every six months for a minimum of three years.