Use

The Invitae RASopathies and Noonan Spectrum Disorders Panel analyzes genes in the Ras/MAPK pathway associated with pediatric conditions termed "RASopathies" or Noonan Spectrum Disorders. These disorders are characterized by features such as short stature, distinctive facial appearances, heart defects, developmental delays, and an increased risk of malignancies. The genetic heterogeneity makes it challenging to pinpoint a definitive cause based purely on phenotype, so broad panel testing is employed to evaluate several potential genes for a single clinical indication, aiding in diagnosis, treatment planning, and management decisions, as well as recurrence-risk assessment and genetic counseling.