Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection Panel
- Marfan syndrome is a genetic disorder of the connective tissue that affects organ systems such as the skeleton, lungs, eyes, heart, blood vessels and others. Marfan patients are at a high risk for ascending thoracic aortic aneurysm formation and aortic dissection. Other serious complications include mitral valve disease, visual loss, and spine abnormalities. Thoracic aortic aneurysm and dissection has a highly variable presentation and age of onset. If the condition is not recognized and left untreated it can easily lead to death. With proper diagnosis and treatment, most affected individuals can have a life span that extends into the 70s and beyond. Treatments include corrective surgery and medications such as beta-blockers, monitored by recommended eye and skeletal exams. About 75 percent of Marfan syndrome cases are inherited and the remaining 25 percent are a result of spontaneous mutation. Several genes have been linked to the condition, with FBN1 being the main cause of the syndrome. About 1 in 5,000 people have Marfan syndrome, and with an autosomal dominant inheritance pattern, there is a 50 percent chance that a persons with the syndrome will pass along the genetic mutation to their offspring. Loeys-Dietz syndrome, Ehlers-Danlos syndrome vascular type, multisystemic smooth muscle dysfunction syndrome, and congenital contractural arachnodactyly all have thoracic aortic aneurysm and dissection as part of their clinical spectrum.
- Genes (17): ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, and TGFBR2
Test Code: 3035
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection Panel
Requisition: Cardiac Test Requisition Form
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81401×1, 81405×3, 81406×1, 81408×2, 81479×10
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Connective Tissue Disorders Panel
3. Sakai, L. Y., Keene, D. R., Renard, M. & De Backer, J. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene 591, 279–291 (2016).
4. Takeda, N. et al. Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes. Int Heart J 57, 271–277 (2016).
5. Verstraeten, A., Alaerts, M., Van Laer, L. & Loeys, B. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery. Hum Mutat 37, 524–531 (2016).