Invitae confirms clinically significant findings using orthogonal technologies including Sanger sequencing, PacBio long read sequencing, aCGH, and MLPA.
Additionally, Invitae confirms any reported CNV event by performing aCGH with a custom designed exon-focused microarray. This is the industry standard technique for these events.
We encourage you to ask other testing providers if they confirm all variants and, if so, ask for a description of their complete process.Read the whitepaper
Invitae’s variant classifications are based on a rigorous, logical, and reproducible assessment of available evidence. Our method of variant interpretation enables us to be comprehensive in our review of the available literature and evidence, transparent in our logic and our conclusions, and clear in our explanations.
Our systematic process adheres closely to the recommendations from the American College of Medical Genetics (ACMG) and was published in Genetics in Medicine, the official journal of ACMG. It represents the industry standard among clinical genetic testing laboratories. Learn more >
For genes that are especially challenging to sequence, we’ve developed advanced processes and stringent standards to ensure you get the answers you need.
PMS2 (exons 12–15) and PMS2CL (exons 3–6) sequences are almost exactly the same, making it very difficult to tell if a variant is in the gene or the pseudogene using conventional methods (e.g., Sanger sequencing, microarray, NGS).
At Invitae, we recognize the importance of identifying these variants correctly to avoid missing or incorrectly diagnosing Lynch syndrome cases. Invitae’s approach to evaluating exons 12–15 of PMS2 is a two-step process for read-through variants and a three-step process for deletions and duplications that ensures accurate analysis. Having reliable mutation detection for PMS2 is important not only in Lynch syndrome families, but in all testing for hereditary cancer predisposition. Learn more >
Complete loss of SMN1 gene function results in spinal muscular atrophy (SMA), an early-onset debilitating neuromuscular disorder characterized by loss of motor neurons in the spinal cord. SMN1 has a near-identical gene copy named SMN2 also located on chromosome 5, approximately 800 kilobases from SMN1. The coding regions of SMN2 and SMN1 differ from one another by a single nucleotide.
Most laboratories traditionally diagnose SMA by performing MLPA or qPCR. These approaches have significant technical limitations and are difficult to efficiently integrate into broader testing.
Invitae has developed a customized methodology to identify SMN1 copy number, enhance detection of compound heterozygous mutations in SMN1, and determine accurate SMN2 copy number, thereby increasing our ability to provide you and your patients clinically actionable information in a single test. Learn more >
Invitae submits all clinically reported variants, their classifications (i.e., pathogenic, benign, VUS, etc.) and the underlying evidence for and against pathogenicity to ClinVar. The sharing of data through ClinVar is unique in that it allows ongoing:
No other mechanism, including published scientific papers, solves these important problems. We encourage you to ask other testing providers if they share all variants, classifications and evidence to public databases. Learn more >