Ambry Genetics and Undiagnosed Diseases Network Team Up to Offer Hope for Patients with Undiagnosed Diseases

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Collaboration holds promise to patients in search for answers and an end to their diagnostic odyssey

Ambry Genetics, A Konica Minolta Company

Given our mutual commitment to helping patients afflicted with elusive, undiagnosed conditions, the collaboration between UDN and Ambry makes perfect sense. As partners, we’ll be increasing awareness of specialized resources available to undiagnosed patients.

Ambry Genetics, a Konica Minolta Company (Ambry), and leading provider of clinical genetic testing, today announced its collaboration with the Undiagnosed Diseases Network (UDN), a NIH-funded research study dedicated to solving the most challenging medical mysteries using advanced technologies. The goal of this collaboration is to facilitate transition of those with negative or uncertain test results to UDN’s program in hopes of providing answers for patients afflicted with undiagnosed conditions.

Rare diseases affect 25 to 30 million people in the United States; 75% of whom are children. Moreover, 25% of pediatric inpatient admissions are due to these undiagnosed diseases. Despite the many breakthroughs in medical research over the last several years, approximately 30% of those with rare diseases remain undiagnosed. The prolonged diagnostic odyssey places a devastating emotional and physical burden on patients, caregivers and other family members, severely diminishing quality of life for all.

Ambry’s mission is to diagnose and better understand disease, including rare and undiagnosed disorders, through quality exome-based genetic testing. First introduced by Ambry for clinical use in 2011, exome testing is a comprehensive methodology that can detect genetic influences on disease, often when all other tests fail to provide answers.

The initial diagnostic rate using exome testing is effective for approximately 25% of patients. Consistent with their mission, Ambry automatically enrolls all patients who do not reach a diagnosis in their “Findings Answers” program, where the pursuit of a diagnosis continues through gene reclassification, follow-up studies in their translational research lab, family studies, and hundreds of research collaborations across the globe. Further, Ambry has a comprehensive and peer-reviewed system for interpretation of potential novel candidate genes for clinical reporting.

“Our collaboration with UDN really complements our ‘Finding Answers’ Program,” stated Kelly Hagman, MS, CGC, Director, Clinical Genomics, Ambry Genetics, “because it’s another promising avenue to answers that undiagnosed patients and their clinicians so desperately need.”

Kimberly LeBlanc, MS, CGC, Associate Director of Research Operations of the UDN Coordinating Center concurred. “Given our mutual commitment to helping patients afflicted with elusive, undiagnosed conditions, the collaboration between UDN and Ambry makes perfect sense. As partners, we’ll be increasing awareness of specialized resources available to undiagnosed patients.”

About Ambry Genetics
Founded in 1999, Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer comprehensive and high quality genetic testing. Ambry has performed more than one million genetic tests and identified more than 45,000 mutations in at least 500 different genes. As part of the Konica Minolta family, Ambry is responsibly applying new technologies to the clinical molecular diagnostics market to deliver precision medicine. For more information about Ambry Genetics, visit http://www.ambrygen.com

About Undiagnosed Diseases Network (UDN)
The UDN is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. http://www.undiagnosed.hms.harvard.edu

Press Contact: June Fujimoto
press@ambrygen.com
949.457.4407

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June Fujimoto
@AmbryGenetics
since: 02/2010
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