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Recent Webinars

Next-Generation Sequencing (NGS) Panel Testing for Noonan Spectrum and Related RASopathy Disorders

Britt Johnson, PhD, FACMG, Invitae Medical Team
April 21, 2015
Series: Invitae Insights
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Noonan syndrome is a genetic condition, often identified at birth, that can be characterized by a wide spectrum of symptoms and physical features. Clinical findings of Noonan syndrome (and related disorders) include congenital heart defects, craniofacial features, cutaneous abnormalities, tumor development, and more. Noonan spectrum disorders are known as RASopathies due to their impact on the RAS-mitogen-activated protein kinase (MAPK) intracellular signaling pathway. Invitae offers panel testing for conditions that fall under this spectrum.

In this webinar, Britt Johnson will describe both the underlying genetics, as well as the laboratory offerings relevant to obtaining a diagnosis for patients presenting with these clinical features.