RASopathies and Noonan Spectrum Disorders Panel Test code: 04151 • 10–21 days turnaround time 28 genes

RASopathies and Noonan Spectrum Disorders Panel

This panel analyzes genes involved in the RAS/mitogen-activated protein kinase (RAS/MAPK) pathway, which is associated with a group of inherited pediatric conditions known as RASopathies, also referred to as Noonan spectrum disorders.

RASopathies are characterized by a broad range of clinical features that may include:

• Short stature
• Distinctive facial features
• Congenital heart defects
• Developmental delays or learning difficulties
• Other physical and developmental abnormalities
• An increased risk of certain malignancies

These conditions can have significant genetic and clinical heterogeneity, meaning that similar clinical features may result from changes in different genes. As a result, a patient's physical characteristics and clinical presentation alone may not always be sufficient to determine the underlying genetic cause.

Broad panel testing allows for an efficient evaluation of multiple potential genes associated with RASopathies and related conditions based on a single clinical indication.

Genetic testing may provide valuable information by helping to:

• Confirm or clarify a suspected diagnosis
• Identify an underlying genetic cause
• Guide treatment and long-term medical management
• Support appropriate monitoring and surveillance
• Assess potential health risks associated with a specific genetic condition
• Provide information for genetic counseling
• Help determine recurrence risk for future pregnancies
• Identify potentially affected family members who may benefit from genetic testing

Identifying a disease-causing genetic variant can provide important information for patients, families, and healthcare professionals and may help establish an appropriate individualized management and surveillance plan.