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Invitae expands pediatric, neurological, and rare disease genetic test offerings

MDBR Staff Writer Published 22 December 2016

US genetic information firm Invitae has expanded its pediatric, neurological, and rare disease genetic test offerings with new and extended panels.

The company announced the availability of 24 new and 19 expanded genetic test panels, enabling clinicians to gather data on 183 new genes with clinical and diagnostic significance.

Invitae’s new offerings include tests for genes associated with epilepsy, developmental disorders, overgrowth syndromes, and skeletal disorders, in addition to tests in dermatology, immunology, and ophthalmology.

The expanded portfolio includes testing for RASopathies/Noonan spectrum disorders, and latest genetic findings for ciliopathies.

The panels help clinicians, patients, and payers to access quality and affordable genetic information across multiple pediatric and neurological disorders, as well as rare diseases at low cost.

According to the company, the consolidation of clinical areas enables customers to order a broader set of tests, which are relevant for the patient at a single price and with a single specimen

Invitae chief medical officer Robert Nussbaum said: “Genetic testing offers answers to questions important to parents and clinicians evaluating a child who may have an inherited disorder, helping to shorten what can be a very long diagnostic odyssey.

“Invitae’s new and expanded panels put an even broader menu of tests into the hands of clinicians who are constantly seeking actionable genetic information to guide their diagnosis, prognosis, and treatment.”

Invitae provides diagnostic services, including multiple genes for different genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas.


Image: The new test products will allow clinicians to gather information on new genes with clinical and diagnostic significance. Photo: courtesy of Suwit Ritjaroon / FreeDigitalPhotos.net.