Marfan Syndrome Test

Marfan Syndrome Genetic Test

This test is intended for individuals with a clinical diagnosis or suspected diagnosis of Marfan syndrome. It analyzes the FBN1 gene, which is definitively associated with Marfan syndrome and other related connective tissue disorders.

Individuals with clinical features or symptoms suggestive of Marfan syndrome may benefit from diagnostic genetic testing to:

• Confirm or clarify the diagnosis
• Identify an underlying genetic cause
• Better understand potential health risks associated with the condition
• Support individualized medical management
• Guide appropriate monitoring and surveillance
• Inform genetic counseling and family testing

Family Testing:
Asymptomatic individuals who have a family member with a known pathogenic variant in the FBN1 gene may also benefit from targeted genetic testing. Determining whether an individual carries the familial variant may help clarify their personal risk of developing Marfan syndrome or another FBN1-related disorder and may support appropriate medical evaluation, monitoring, and management.

Genetic testing may also help identify other family members who could benefit from genetic counseling and clinical evaluation.