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

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

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.

Press Contact: June Fujimoto

Read the full story at

Source: PRWeb
Copyright©2019 Vocus, Inc.
All rights reserved

Related medicine technology :

1. Gene By Gene Rejects BRCA1/2 Patent Infringement Claims by Myriad and Joins Ambry Genetics to Sue Myriad for Violating Federal Antitrust Laws
2. Ambry Genetics Unveils Its Super Lab, One of the Largest, Most State-of-the-Art Commercial Laboratories in the World
3. Atossa Genetics to Present at the Second Annual Marcum LLP MicroCap Conference
4. NewLink Genetics Presents Positive Phase 2 Data on Novel Immunotherapy, Tergenpumatucel-L, in Non-Small Cell Lung Cancer at the ASCO 2013 Annual Meeting
5. NewLink Genetics Presents Results from Two Phase 1 Studies with Immunotherapy Agent, Indoximod, at the ASCO 2013 Annual Meeting
6. A Finnish Company Enters International Markets With World Class Genetics Technology
7. Sharp Edge Labs and SpectraGenetics Sign Agreement to Provide Better Assays for Studying G-Protein Coupled Receptors
8. Potential Acquisitions and Stock Price Updates - Research Report on BioMarin, Covidien, United Therapeutics, Brookdale, and Seattle Genetics
9. Sophia Genetics Becomes the First European Company to Obtain CE-IVD Mark for Clinical use of Next Generation Sequencing Bioinformatics Pipeline for Routine Genetic Testing
10. Sophia Genetics Announces First Deal With Britains NHS and Leading Turkish Laboratory, Expanding European Customer Base
11. Sophia Genetics gibt ersten Vertrag mit dem britischen NHS und einem führenden türkischen Labor bekannt und erweitert seinen europäischen Kundenstamm
Post Your Comments:
(Date:8/23/2019)... Ill. (PRWEB) , ... August ... ... University Edwardsville online master’s in healthcare informatics has been ranked sixth in ... professionals integrate the worlds of medicine and technology by combining their expertise ...
(Date:8/21/2019)... ... August 21, 2019 , ... ... by Modern Healthcare’s Construction and Design Survey, has added Operational Readiness to ... a comprehensive overlay to clients’ capital projects, working with the clinical and ...
(Date:8/21/2019)... , ... August 21, 2019 , ... Dr. Leonard ... correction with their newest laser ReLEx® SMILE (Small Incision Lenticule Extraction) located in their ... Contoura LASIK and SMILE in the Tri-State area. SMILE is a one-step, one laser ...
Breaking Medicine Technology:
(Date:8/21/2019)... ... , ... ISOComforter , a leader in providing products for cold therapy pain relief ... a powered cold unit supply that is shaped like a small cooler. A ... such as the shoulder pad, lumbar pad, hip wrap, or knee pad. , ISOComforter has ...
(Date:8/19/2019)... ... August 19, 2019 , ... AJG Packaging, a ... the availability of resealable single-dose vials for a multitude of applications. The strips, ... of five resealable breakaway vials and are available in either polyethylene or polypropylene ...
(Date:8/19/2019)... ... August 19, 2019 , ... ProRehab Louisville and Dr. Stacie Grossfeld ... therapy and to access to top-notch sports medical care and sport injury experts for ... physical demands of ice skating, knows the individualized treatment plan, and understands what a ...
(Date:8/19/2019)... ... August 19, 2019 , ... Cosmetic Town, an online plastic surgery and information ... doctors in New York currently providing a lifetime of natural looking results for patients ... thinning hair. Cosmetic Town makes the process of finding information about these board-certified surgeons ...
(Date:8/17/2019)... ... August 17, 2019 , ... Inc. Magazine Unveils YellowTelescope, ... 5000 , For the 2nd Year In a Row, YellowTelescope LLC Appears on ... , Inc. magazine today revealed that YellowTelescope LLC (YellowTelescope, SEOversite, and iScreamSocialMedia) is ...
Breaking Medicine News(10 mins):