Preferred test to confirm a diagnosis of Marfan syndrome (MFS) in an individual who meets clinical criteria. If clinical criteria for MFS are not met and the phenotype is one of aortic or vascular aneurysm, dissection, or rupture, refer to Aortopathy Panel, Sequencing and Deletion/Duplication (2006540) instead.
Massively Parallel Sequencing/Multiplex Ligation-dependent Probe Amplification
New York DOH Approval Status
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report
Laboratory Developed Test (LDT)
Gene Tested: FBN1
|Component Test Code*||Component Chart Name||LOINC|
|3004103||Marfan Syndrome (FBN1) Specimen|
|3004104||Marfan Syndrome (FBN1) Interpretation|
- Marfan's Syndrome