FBN1 Gene Sequencing & Del/Dup
New York
Approved
Genes
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
Alternative Specimen
*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.
Test Documents
Billing
Targeted Variant Testing