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.
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As part of Invitae’s dedication to making high-quality genetic testing affordable and accessible, we also offer a patient pre-pay option of $250. Learn More >
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