FBN1 reflex to TAADNext
Use
The FBN1 reflex to TAADNext test is significant in clarifying the diagnosis of hereditary cardiovascular disorders, particularly thoracic aortic aneurysms and dissections, Marfan syndrome, and related genetic conditions. Detecting a mutation in the FBN1 gene and other associated genes helps guide medical management and preventive measures, potentially preventing life-threatening events such as sudden cardiac death. The test plays a crucial role in assessing familial risk and guiding surveillance and management strategies.
Special Instructions
Family variant testing is offered at no additional cost for blood relatives of patients who have undergone testing and have a pathogenic or likely pathogenic variant. The reflex testing must be completed within 90 days from the original report, with more closely related individuals prioritized for testing before more distant relatives.
Limitations
The FBN1 reflex to TAADNext test may not detect all genetic mutations that contribute to thoracic aortic aneurysms and related disorders. Variants in regions with pseudogene interference, low coverage, or inadequate depth of read may require additional verification via Sanger sequencing. Moreover, exon-level resolution may not be achieved for all genes, especially CBS and TNXB exons 32-44. Clinical sensitivity is subject to variation based on the specific patient and family history context.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
3 mL
Container
EDTA tube
Collection Instructions
Collect using standard phlebotomy techniques into an EDTA (lavender top) tube.
Storage Instructions
Store at room temperature if it will be received by the lab within 48 hours; otherwise, refrigerate.
Causes for Rejection
Hemolysis, incorrect container, frozen whole blood.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 1 week |
| Frozen | 15 days |
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