Invitae Expands Its Offering for Rare Disease and Pediatric Conditions With Broader, More Affordable Genetic Tests

October 11, 2015

Invitae Corporation (NYSE: NVTA), a genetic information company, today announced that it has started to expand its offering of genetic tests for rare diseases and pediatric conditions, providing broader panels and new testing categories.

Invitae’s new test panels for various congenital structural heart defects provide a broad, innovative option for patients with negative or uncertain chromosomal microarray results.  Additionally, Invitae has expanded its test panels for two challenging pediatric disorders, the RASopathy syndromes, such as Noonan syndrome, and the primary ciliary dyskinesias (PCD), a serious pediatric disorder of the respiratory system that often escapes early diagnosis.

Invitae plans to continue to broaden its test menu for rare and pediatric conditions over the next few months to be able to better serve the clinical community and the patients they see. In addition, Invitae continues to offer its line of panel testing for hereditary hemochromatosis, thrombophilia, and Fanconi anemia.

Individuals with clinical evidence of childhood-onset genetic conditions may benefit from diagnostic testing to confirm a clinical diagnosis, determine inheritance patterns, allow accurate genetic counseling for parents, provide insight into clinical management strategies for optimal patient care, and in some cases, establish eligibility for clinical trials.

“As clinicians, we see families who have suffered a diagnostic odyssey that can last for years and cost the families and the healthcare system a significant amount of money,” said Michael Knowles, MD, professor of pulmonary and critical care medicine at University of North Carolina School of Medicine. “We have been waiting for a comprehensive and affordable clinical genetic panel to aid the diagnosis of PCD and other rare lung diseases, and are delighted to see comprehensive clinical genetic panels that provide options for patients with symptoms suggesting a genetic lung condition. Congratulations to Invitae for this new development.”

“The PCD Foundation welcomes news of an expanded genetic panel to aid in the diagnostic process for PCD. Access to comprehensive and affordable genetic testing holds the promise of simpler and earlier diagnosis, which would greatly improve the quality of life for families and affected individuals who are often caught in a protracted, confusing and painful diagnostic process,” said Michele Manion, executive director of the PCD Foundation. “Accurate diagnosis is the cornerstone that supports our research efforts, in turn providing hope for people with PCD. We congratulate Invitae on this exciting announcement.”

Invitae offers a transparent pricing structure independent of the number of genes required to provide an accurate diagnosis for any specific clinical indication. For payers and institutions who are in contract with Invitae, the price per indication can be as low as $950, depending on the payer’s requirements. For third-party payers with whom Invitae is out of network and for non-contracted institutions, the price per indication remains $1,500. In addition, for patients without third-party insurance coverage or who do not meet insurance criteria for coverage, Invitae offers its full test menu for $475 per indication for patients whose clinician has ordered the testing online and who register online and pay in advance for the testing.

“Historically, genetic testing has been inaccessible to many because of the cost associated with high quality tests. Invitae is committed to making testing accessible to billions of people by lowering the cost of high quality genetic testing,” said Robert Nussbaum, MD, chief medical officer of Invitae. “Genetic testing of childhood-onset conditions may confirm diagnosis and inheritance patterns, providing families and other at-risk individuals the ability to make informed decisions.”

About Invitae

Invitae Corporation’s (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae’s goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a single diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics and other rare disease areas.

For more information, visit our website at and follow us on @twitter: @invitae and @invitaeIR.

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