Invitae’s Gene of the Week educational series

The field of genetics is constantly evolving as new data emerges linking genes and disease. As your partner in genetic testing, we’re working to provide the most up-to-date resources to support your practice. If you’re looking to learn about some not-so-common genes or searching for a database of information to support your clinic notes, Invitae’s…

Read More

Major expansion of metabolic disorders & newborn screening and immunology offerings

Invitae is excited to announce the launch of 80 new and 24 expanded genetic test panels, centered on our metabolic disorders & newborn screening and immunology clinical areas. The panels provide clinicians, patients, and payers greater flexibility to access high-quality, affordable genetic information across a larger number of metabolic disorders and newborn screening options as…

Read More

Expanding the phenotype of FLNC-associated disease

Missense variants in the gene filamin C (FLNC) have a longstanding, well-established association with myofibrillar and distal myopathy.1,2 An important study recently published in the Journal of the American College of Cardiology expanded the clinical presentation associated FLNC by specifically linking protein truncating variants with cardiac phenotypes exclusive of myopathy.3 The group identified 23 unique truncating variants…

Read More

Leading with quality: Deletions and duplications

Did you know that Invitae analyzes deletions and duplications for each and every gene in all our panel tests at no additional charge? Diagnostic genetic testing requires a carefully constructed medical assay to thoroughly interrogate genes of interest. Invitae’s assays comprehensively report sequence changes and deletion/duplication events in coding exons, splice sites, and other regions…

Read More

Rare Disease Day is less than a week away

On February 28th, the rare disease community comes together to raise awareness of the impact of rare diseases on millions. For the 30 million people experiencing a rare disease, life can be filled with questions. Identifying possible symptoms of a rare disease often sparks a “diagnostic odyssey” that can stretch over many years. Fortunately, as…

Read More

Leading with quality: Data sharing

Only through real and meaningful data sharing can the field of genetics reach its full potential. At Invitae, we’re dedicated to improving medicine not just by sharing segments of our data, but by sharing all variants, classifications and evidence. That’s not yet the industry standard—but it is at Invitae. Among other activities, Invitae has played…

Read More

Exciting year ahead for genetic testing

2016 was an exciting year for genetics, and an important one for Invitae. Last year we provided genetic testing to more people than ever before, reduced our turnaround times, and expanded our test menu to over 1,100 genes. We also improved patient access to our testing by adding new insurance payers to secure coverage for…

Read More