FBN1 Gene Sequencing + Deletion/Duplication
Use
This test provides comprehensive evaluation of the FBN1 gene, detecting both sequence variants and deletion/duplication events. It is clinically significant for the diagnosis and management of Marfan syndrome and other FBN1-related connective tissue disorders, enabling appropriate clinical care, prognostic assessment, familial cascade testing, and genetic counseling.
Special Instructions
Ordering providers should use the specific test code for single-gene FBN1 sequencing plus deletion/duplication analysis. Ensure proper informed consent and genetic counseling are considered; GeneDx performs coverage analysis post clinical and billing review, and uses their rare‐disease data infrastructure (GeneDx Infinity™). Request supplies or refer to requisition forms as needed.
Limitations
The test may not detect deep intronic or regulatory region variants outside coding and deletion/duplication targets. Turnaround time is variable; results may be delayed beyond estimates due to external factors. Analytical detection of certain structural variants depends on assay design and may not capture complex rearrangements. Phenotypic overlap of connective tissue disorders may warrant broader or panel testing.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided