Invitae announces major expansion of its neurology and cardiology test offerings

This morning, Invitae announced an expansion of our neurology and cardiology test offering, adding 11 new panels for heritable diseases. In addition, Invitae has updated 17 existing neurology panels and eight cardiology panels based on new discoveries in genetics research.

With this latest expansion of its test offerings, Invitae will be able to provide clinicians, patients, and payers with even higher-quality information on genetic changes that have been shown to influence a variety of neurologic and cardiovascular disorders – for the same price and with the same three-week average turnaround time. The new panels will be available immediately to children’s hospitals, pediatricians, and medical genetics professionals for clinical diagnosis and care.

“Invitae is steadfast in its commitment to making high-quality genetic tests based on the latest clinical and scientific evidence available to patients and their family members,” said Robert Nussbaum, MD, chief medical officer of Invitae. “The launch of our new and updated panels clearly illustrates our ongoing dedication to careful and comprehensive gene curation.”

Expanded neurology testing

With this expanded neurology offerings, Invitae provides clinicians, patients, and payers with more options for high-quality, affordable genetic testing, including:

  • Invitae’s Hereditary Parkinson’s Disease & Parkinsonism Panel, analyzing up to 17 genes associated with Parkinson’s disease and related conditions involving Parkinsonian features.
  • Invitae’s Comprehensive Neuropathies Panel – 78 genes covering Charcot-Marie-Tooth (CMT) disease, hereditary motor neuropathies, hereditary sensory and autonomic neuropathy, and riboflavin transporter deficiency neuronopathy
  • Invitae’s Comprehensive Neuromuscular Disorders Panel – 116 genes covering muscular dystrophy, myopathy, and congenital myasthenic syndrome
  • Additional myopathy panels, including a hyperkalemic periodic paralysis test, a hypokalemic periodic paralysis panel, an inclusion body myopathy panel, and an autophagic vacuolar myopathy panel
  • Additional neuropathy panels, including hereditary sensory and autonomic neuropathy panels, a hereditary motor neuropathies panel, and a riboflavin transporter deficiency neuronopathy panel
  • Updates to existing panels to incorporate the latest research findings:

“Genetic testing for hereditary Parkinson’s disease has fundamentally changed the way in which we look at providing answers to families affected with this devastating condition,” said J. William Langston, MD, chief scientific officer and founder of the Parkinson’s Institute and Clinical Center. “My hope is for every person with early-onset Parkinson’s or a family history of the disease be provided the opportunity to have genetic testing, so we can work together to develop better treatments and improve healthcare for everyone.”

Invitae’s latest expansion of its test offering is based on the latest research findings in genetics across various panels. For example, three peer-reviewed papers published in the past year show evidence that the MORC2 gene causes CMT disease, and therefore was added to Invitae’s comprehensive CMT panel:

“We are excited to see the addition of new genes in Invitae’s CMT panel,” said Susan Ruediger, patient advocate and Director of Development at the Charcot-Marie-Tooth Association (CMTA). “Comprehensive genetic testing can provide patients with a definitive diagnosis, which is critical for the treatment and management of the disease.”

Cardiovascular panels aligned to new research

Understanding of the genetic links to cardiovascular disease is rapidly advancing. Invitae has expanded eight existing cardiology panels to reflect recent advances in the field to provide comprehensive, evidence-based test options for diagnosing aortopathies, arrhythmias, cardiomyopathies, and pulmonary hypertension. Additionally, Invitae has added a new cardiomyopathy and skeletal muscle disease panel for patients who exhibit overlapping features of both heart and skeletal muscle disorders that analyzes up to 157 genes associated with neuromuscular disorders and cardiomyopathies.

“The role of genetic testing in diagnosing cardiovascular disease is rapidly expanding, now offering us insights that can help patients with a variety of conditions, such as dilated cardiomyopathy and primary arrhythmias,” said Ray Hershberger, MD, professor of cardiovascular medicine and director of the division of human genetics at The Ohio State University Wexner Medical Center. “Importantly, genetic testing can also help us understand when cardiac problems are actually the first symptoms of a broader genetic disease. Expanding our ability to access clear and comprehensive genetic information will help us better diagnose and treat patients.”

This expanded offering includes state-of-art cardiovascular genetic testing with panels expertly curated and updated by medical and genetics experts. The Invitae Cardiomyopathy and Skeletal Muscle Disease Panel is a convenient and economical option for patients presenting with overlapping features associated with cardiomyopathies and muscular dystrophies that typically require multiple test orders.