Rest of Marfan/TAAD Sequencing & Del/Dup Panel
Use
This test provides comprehensive assessment for patients who tested negative for FBN1 sequencing and deletion/duplication analysis (Test #918). It enables evaluation of additional genes associated with Marfan syndrome and thoracic aortic aneurysm and dissection (TAAD), which supports differential diagnosis, risk stratification, and family recurrence risk counseling.
Special Instructions
Not provided.
Limitations
Deletion and duplication analyses may not detect all copy number variants, particularly in regions such as CBS and TNXB exons 32 to 44 (if applicable). False negatives may occur in poorly covered regions. This test does not include FBN1, as that is evaluated separately in Test #918.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Label specimen tube with two identifiers; follow standard submission instructions
Other tests from different labs that may be relevant