RASopathies is the collective term for conditions caused by pathogenic variants in the RAS-MAPK signaling pathway. Many of these conditions are characterized by distinct facial features, congenital heart disease, skin abnormalities, ocular abnormalities, hypotonia, and joint hyperextensibility. As a whole, RASopathies are among the most common autosomal dominant conditions affecting approximately 1 in 1,000 individuals.
Noonan syndrome is the most common RASopathy. It causes bleeding problems, heart defects, particularly pulmonary valve stenosis, short stature, and unusual facial features. People with Noonan syndrome may also have developmental disabilities, hearing or vision problems, or lymphedema. Some signs of Noonan syndrome may be present at birth including cryptorchidism, wide-set pale blue eyes, micrognathia, and loose skin on the neck.
This panel includes genes associated with the RAS-MAPK pathway that are associated with Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, Noonan syndrome with multiple lentigines, neurofibromatosis type 1, and capillary malformation-arteriovenous malformation syndrome. For a comprehensive approach, the panel also includes genes associated with conditions important to the differential diagnosis, such as Aarskog-Scott syndrome, Baraitser-Winter syndrome, genitopatellar syndrome, and Takenouchi-Kosaki syndrome.
Who is this test for?
This panel may be appropriate for anyone with a personal or family history of Noonan syndrome or other RASopathies. Infants born with multiple congenital malformations and dysmorphic features may benefit from testing. Testing can also confirm or rule out RASopathies as an explanation for short stature, or developmental delay.
What are the potential benefits for my patient?
Features of Noonan syndrome and RASopathies are distinct but also overlap with other conditions. Genetic testing can help confirm or rule out a diagnosis to help guide the course of treatment.
Genetic testing for Noonan Syndrome and RASopathies can:
- Establish or confirm the appropriate diagnosis
- Identify risks for additional health-related symptoms
- Assist in modifying lifestyle changes
- Result in more personalized treatment and symptom management
- Inform family members about their own risk factors
- Connect patients to relevant resources & support
- Provide options for family planning