Loeys-Dietz Syndrome Panel Test code: 02311 • 10–21 days turnaround time Up to 35 genes

Loeys-Dietz Syndrome Panel      Up to 35 genes

This panel is intended for individuals with a clinical diagnosis or features suggestive of Loeys-Dietz syndrome (LDS). It evaluates genes associated with LDS as well as other inherited connective tissue and vascular disorders that may present with similar clinical features.

Individuals who present with characteristics of a connective tissue disorder involving the cardiovascular system may benefit from genetic testing to:

• Confirm or clarify a diagnosis
• Identify an underlying genetic cause
• Clarify potential cardiovascular and vascular risks
• Guide individualized medical management
• Support appropriate cardiovascular monitoring and surveillance
• Inform risk-reduction strategies
• Provide information for genetic counseling and family testing

Confirming a diagnosis of Loeys-Dietz syndrome can be particularly important for medical management because some individuals with LDS may be at risk for aortic dissection at smaller aortic dimensions than individuals with certain other connective tissue disorders. LDS may also be associated with aneurysms or dissections involving arteries beyond the aorta.

Identifying the underlying genetic cause may therefore help healthcare professionals develop an appropriate surveillance and management plan and may help determine which family members could benefit from genetic testing and clinical evaluation.