Five Applicants In Need Will Get A Whole Genome Sequencing Test Courtesy of SWAN and ORKO’s GeneDx

April 13, 2016

OPKO Health, Inc. (NYSE:  OPK) through its GeneDx subsidiary and Syndromes Without a Name (SWAN) are proud to announce the donation of five Whole Exome Sequencing (WES) Trio tests to SWAN on Rare Disease Day as a way to honor the company’s founding principles. Rare Disease Day, which takes place on the last day of February each year, aims to raise awareness about rare and ultra-rare diseases and the impact that they have on patients’ lives.

“As a laboratory founded to help families find a diagnosis for the rare genetic disorder which impacts them, Rare Disease Day is near and dear to our hearts here at GeneDx,” said Sherri Bale, Ph.D., FACMG, Co-Founder of GeneDx and Senior Vice President of BioReference Laboratories, and a Founding Member of the American College of Medical Genetics. “We are excited to be able to donate several whole exome tests to SWAN as a way to continue our history of helping patients to find the underlying molecular basis of their disease.”

Founded in 2000, and initially offering only 14 tests used to diagnosis rare genetic disorders, GeneDx now offers one of the most comprehensive genetic testing menus in the world. As an industry leader in whole exome sequencing, GeneDx has sequenced more than 30,000 exomes leading to thousands of genetic diagnoses for patients with rare and ultra-rare heritable disorders. Furthermore, GeneDx continues to leverage the data from its whole exome sequencing program to make major contributions to the rare disease community in the form identifying novel gene/disease relationships and sharing that information via  scientific publications and presentations. In the last year alone, GeneDx has authored over 20 peer-reviewed publications and given over 40 presentations at scientific meetings across the world. Together with the Women’s Health and Oncology business units of BioReference, GeneDx offers the widest menu of genomic testing services in the world.

“We are so thankful for the opportunity to be able to give a handful of families a chance at finding answers, some families aren’t able to get this test because of financial and insurance barriers” says Amy Clugston, Founder and President of SWAN USA. “I know personally how hard it is to face an extended diagnostic odyssey with my own daughter whose diagnosis, a mutation in the DYRK1A, was found through whole exome sequencing after 18 years of being undiagnosed. This truly is a gift of hope.”

“Very often, rare disorders are not only about patients but are about families for whom we have brought closure to the diagnostic odyssey that has consumed their lives. We celebrate Rare Disease Day as a way to recognize these families and raise awareness about their conditions,” stated Marc Grodman, MD, CEO of BioReference Laboratories and GeneDx. “We are honored to be able to help patients and families identify and understand the genetic cause(s) of their conditions while contributing to the rare disease community through further research and collaboration.”

About GeneDx:

GeneDx is a world leader in Genomics with an acknowledged expertise in rare and ultra rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx provides testing to patients and their families in more than 55 countries. To learn more about GeneDx’s complete list of testing options, please visit or email [email protected].  

About SWAN

Syndromes Without a Name is a nonprofit tax-exempt 501(c)(3) organization that advocates for children and young adults who have syndromes without a name.  We offer support, advice and information on the challenges that families face when there is no diagnosis.  We also advocate for changes in the medical community that will benefit undiagnosed individuals.  For more information, please visit


Visit SWAN’s website for entering information. 

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