Pharma Focus Asia

Invitae Introduces First Comprehensive Genetic Test Suite for Neurodevelopmental Disorders

Tuesday, April 05, 2022

Invitae, 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.

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