Food Allergy Research & Education (FARE) launches PIN

Food Allergy Research & Education (FARE) has launched the FARE Patient Registry, which leverages Invitae’s Patient Insights Network (PIN) platform to enable permission-based sharing of patient data to advance the understanding and treatment of inherited health conditions. The FARE Patient Registry amplifies patients’ voices and insight to accelerate research to uncover the causes of food…

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OlympiAD trial: BRCA-positive mBC outcomes improved with PARP inhibitor

Targeted therapies are few for patients with HER2-negative breast cancer. A phase III trial presented at the ASCO Annual Meeting1 described a way to identify potential therapeutic benefit from a PARP inhibitor: BRCA status. The OlympiAD trial demonstrated that the PARP inhibitor olaparib yielded improved survival over chemotherapy for HER2-negative metastatic breast cancer (mBC) patients…

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Leading with quality: Variant classification

At Invitae, we believe there’s a new gold standard today, one that includes both high-quality testing and a dedication to improving medicine by sharing data and best practices. We recently published our approach to variant classification in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG). The paper…

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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…

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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…

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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…

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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…

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