ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
- Marfan Syndrome/LDS/Related Disorders
- Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
- Classical Ehlers-Danlos syndrome
- Vascular Ehlers-Danlos syndrome
- Confirmation of clinical diagnosis in symptomatic patients
- Risk assessment of asymptomatic family members of a proband with TAAD
- Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders
- Deletion/Duplication Analysis
- Next-Gen Sequencing
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.