By Justin Farris

Phosphorus Launches Genetic Tests for Inherited Cardiology Diseases Associated with Sudden Death and High Cholesterol

The tests can help affected patients and family members guide disease management to prevent severe cardiac events, such as heart attack or sudden death.

New York. March 15, 2017.

Phosphorus, a genomic health company, announced today the launch of advanced genetic tests for inherited conditions associated with early-onset cardiovascular disease and sudden death. The tests include the most comprehensive panel of genes based on the latest advances in cardiovascular disease research, and will be unveiled at the American College of Cardiology (ACC) Annual Scientific Session in Washington, D.C. this week.

The genetic underpinning of cardiovascular disease has been widely characterized and is a rapidly evolving field of medicine. Hypertrophic cardiomyopathy (HCM), a disease included in the tests, is a silent killer characterized by abnormalities of the heart muscle. It is the leading cause of sudden cardiac death in young adults and affects approximately 1 in 500 individuals. Most affected individuals are unaware of their risk for the condition and its devastating effects.

“Genetic testing is important for confirming diagnosis in patients suspected of having an inherited cardiovascular condition and can guide disease management and treatment to prevent cardiac events, such as heart attack or sudden death,” explained Oscar Puig, Senior Vice President of R&D at Phosphorus. “Additionally, genetic testing of family members of an affected patient is tremendously useful for identifying additional affected individuals so they can take necessary proactive steps earlier and prior to onset of disease symptoms.”

Phosphorus’ expert-curated panels, powerful data analytics, and rigorous variant interpretations have been designed and developed to ensure the most accurate results for patients. The tests are powered by next-generation sequencing technology, including comprehensive detection of copy number variants. The simple testing workflow is designed to ease the process for physicians and provide an affordable option for patients and their family members.

“We believe genetic testing for these diseases can offer tremendous health benefits to patients and families. It is devastating to hear of cases where the first diagnosis within a family is made after the disease has claimed a life,” said Alexander Bisignano, co-founder and CEO of Phosphorus. “These tests can truly save lives.”

The newly launched genetic tests include the following conditions:

  • Cardiomyopathies: Over 100 genes. Includes genes associated with hypertrophic cardiomyopathy, dilated cardiomyopathy, left ventricular non-compaction, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy, and others.
  • Arrhythmias: Over 50 genes. Includes genes associated with long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, arrhythmogenic cardiomyopathy, and others.
  • Familial Hypercholesterolemia: 4 genes. Genetic disorder associated with severely elevated LDL cholesterol levels, which contribute to an increased risk for cardiovascular disease.

Learn more about Phosphorus tests at the American College of Cardiology in Washington, D.C. at booth #2806. View the scientific results on Sunday, March 19, 2017 from 9:30 AM – 12:30 PM in Poster Hall C at Poster #262: “Comprehensive Next Generation Sequencing Assay for Identifying Pathogenic Variants Associated With Cardiovascular Diseases”.

About Phosphorus

Phosphorus is a genomic health company with the vision to create a world where every healthcare decision is optimized with genomics. Headquartered in New York City, Phosphorus offers clinical genetic tests in a range of clinical areas from its CLIA-certified laboratory. The company also develops powerful software that enables labs around the world to deliver the most advanced genetic tests. Phosphorus’ active research and development program has an initial focus on decoding the genetic causes of infertility and inherited cardiovascular disease. With a team of experts in computational biology and computer science, Phosphorus is building a data network that will help providers, researchers and patients around the world better understand and harness the power of the human genome. For more information visit: www.phosphorus.com and @phosphorus.

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