Rest of Marfan/TAAD Sequencing & Del/Dup Panel

NY Approved

Test Overview

Clinical Utility

  • 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

Test Details

Genes

ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN2, FLNA, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2

Conditions

  • Classical Ehlers-Danlos syndrome
  • Marfan Syndrome/LDS/Related Disorders
  • Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
  • Vascular Ehlers-Danlos syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: 919
CPT Codes*: 81405x2, 81406x2, 81407x1, 81408x1, 81411x1, 81479x3
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs