Healthcare Industry News:  Fragile X Syndrome 

Diagnostics Product Launch

 News Release - April 4, 2022

Invitae Introduces First Comprehensive Genetic Test Suite for Neurodevelopmental Disorders

First to offer suite of tests in easy to access format for children with developmental disabilities

SAN FRANCISCO, April 4, 2022 -- (Healthcare Sales & Marketing Network) -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced the full commercial launch of its Neurodevelopmental Disorders (NDD) package to deliver a robust testing suite that can deliver actionable genetic insights to inform treatment plans for children with developmental disabilities. Invitae is the first to offer this particular suite of tests to clinicians and patients in an easily accessible format.

The package includes chromosomal microarray analysis, analysis for fragile X-related disorders, and a next-generation-sequencing panel of 200+ genes in which variants are associated with neurodevelopmental disorders. The gene panel can detect sequence variants as well as full or partial gene deletions and duplications (i.e. intragenic copy number variants) that a chromosomal microarray analysis (CMA) alone may not detect. The comprehensive package provides reports for all three tests and can help provide clarity on the genetic etiology and root cause of these complex and sometimes overlapping conditions. The package is accessible, affordable, and fast, with test results delivered in 10-21 days.

"The NDD package provides genetic answers in a timely fashion, with a goal of informing physicians and parents, informing care decisions and developing appropriate treatment plans for patients," said Robert Nussbaum, M.D., chief medical officer, Invitae. "Although numerous other labs offer each individual component, Invitae is the only lab to offer this as a comprehensive suite of tests with rapid turn-around time of 10-21 days. We make it easy to access the entire suite of tests by providing one dedicated sample collection kit."

One in six children between the ages of 3 and 17 years old has a developmental disability, yet two out of three children do not receive the recommended genetic testing. The NDD package is supported by guidelines from the American Academy of Pediatrics that recommend CMA and Fragile X Syndrome testing for children with intellectual disability, global developmental delay, or autism spectrum disorder. They also recommend further testing that may include gene panels and whole exome sequencing.

To learn more about the Invitae NDD package, visit Invitae.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time and lower prices. For more information, visit the company's website at

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the availability, features and potential impact of the company's products; the company's belief that it is the first and only laboratory to offer this comprehensive suite of tests for neurodevelopmental disorders in an easily accessible format; the company's belief that its NDD package is affordable and fast; and the company's belief that its NDD package will inform care decisions and treatment plans for patients. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Annual Report on Form 10-K for the year ended December 31, 2021. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

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  2. Kiely B, et al. Appl Clin Genet. 2016;9:93–100. doi: 10.2147/TACG.S103975
  3. Lipkin PH, Macias MM. Pediatrics. 2020;145(1):e20193449. doi: 10.1542/peds.2019-3449

Source: Invitae

Issuer of this News Release is solely responsible for its content.
Please address inquiries directly to the issuing company.

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