Setting the standard: Invitae helps adapt the ACMG/AMP variant classification framework for inherited cardiomyopathies

Invitae cardiology genetics expert John Garcia on the importance of consistent variant classification and a collaboration to make recommended modifications to the ACMG variant classification framework. Sequencing DNA isn’t enough. A genetic sequence must also be translated into medically actionable information, in a manner that is both accurate and consistent across testing laboratories. In 2015,…

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Finding answers for Ben:
A journey of discovering creatine transporter deficiency

Amy Perry, the mother of a child with creatine transporter deficiency

  Creatine transporter deficiency (CTD) is a rare metabolic disease that affects the way creatine is transported to the brain and muscles. Creatine is a natural substance that plays a major role in energy generation within cells. Lack of creatine can cause growth and developmental delays, including abnormalities in expressive and cognitive speech, as well…

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Lower patient-pay price: $250

We’ve lowered our patient-pay panel price from $475 to $250. Invitae’s mission is to make high-quality genetic testing affordable and accessible to everyone who needs it. Today we’ve taken another step forward on behalf of patients. To help patients who do not meet coverage policies for testing, have high-deductible plans, or aren’t covered by insurance,…

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Updates to more than 20 cardiology, pediatric, neurology & metabolic panels

Invitae is pleased to announce that we’ve updated 23 neurology, pediatric genetics, metabolic, and cardiology panels based on client feedback and recently published studies. View the updated panels here (changes marked in red) or in the Invitae test catalog: Neurology Invitae Amyotrophic Lateral Sclerosis Panel Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Invitae Charcot-Marie-Tooth Disease…

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New consensus guidelines: Genetic testing for prostate cancer patients

New consensus guidelines on genetic testing for prostate cancer (PCa) patients are now available—published in JCO by more than 70 experts from the fields of urology, genetics, and medical oncology. The guidelines, which provide a framework for genetic evaluation, prostate cancer screening, and management, advise that: hereditary PCa testing should include BRCA1, BRCA2, HOXB13, and…

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Rigorous, reproducible variant classification

Sequencing DNA isn’t enough. Genetic sequence must also be translated into medically actionable information. Invitae has invested heavily in developing Sherloc, an advanced variant classification system that enables objective and reproducible results, a cornerstone of clinically valid and scientifically accurate genetic testing. We recently published our approach in Genetics in Medicine, the official journal of…

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Three highlights from “The future of genetic testing,” a webinar with Randy Scott, chairman at Invitae

Randy Scott, PhD, recently presented a webinar The future of genetic testing: Making genetic information more affordable and accessible for all. In case you missed it, we’ve compiled the top three highlights from the webinar. Read on for the highlights or watch the entire recording. 1. Our vision: Affordable genetic testing for all Genomic technology…

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