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FBN1 Gene Sequencing & Del/Dup

New York
Approved


Genes

FBN1

Conditions

  • Loeys-Dietz syndrome (LDS)
  • Marfan Syndrome/LDS/Related Disorders
  • Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders

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

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Test Code

918

CPT Codes*

81408x1, 81479x1

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.

**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.