RASopathies Report

RASopathies

RASopathies are a group of genetic conditions that affect multiple systems in the body, including the heart, skin, and bones. This report analyzes genes associated with the condition, allowing for early detection and personalized treatment options for patients. The test can benefit individuals with symptoms such as skin abnormalities, heart defects, or intellectual disability, as well as those with a family history of the condition. Early diagnosis can help prevent complications and improve patient outcomes.

More than 24 genes analyzed

It is recommended if:

This report is recommended for individuals with symptoms such as skin abnormalities, heart defects, or intellectual disability, as well as those with a family history of RASopathies. The test can provide patients and their families with information that can help guide their healthcare decisions, including personalized treatment options and the potential for early detection. Early diagnosis can help prevent complications and improve patient outcomes.

List of main conditions:

• Noonan syndrome
• Cardiofaciocutaneous syndrome
• Neurofibromatosis type 1
• Legius syndrome
• Noonan-like syndrome with loose anagen hair
• Costello syndrome
• Noonan syndrome with multiple lentigines
• Noonan-like syndrome