Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
Ordering Recommendation

Preferred test to confirm diagnosis when Marfan syndrome is strongly suspected by consensus criteria.

Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
28-35 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background information for Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication:
Aortic root dilatation/dissection, ectopia lentis, positive wrist and/or thumb sign, pectus carinatum or excavatum, hindfoot deformity, pneumothorax, dural ectasia, acetabular protrusion, scoliosis or thoracolumbar kyphosis, reduced upper/lower segment ratio and increased arm/height ratio in persons without severe scoliosis, reduced elbow extension, skin striae, myopia, mitral valve prolapse, and characteristic facial features.
Prevalence: 1 in 5,000 - 1 in 10,000.
Inheritance: Autosomal dominant.
Penetrance: 100 percent, age-dependent.
Cause: Pathogenic FBN1 gene mutations.
Clinical Sensitivity: 70-93 percent for sequencing, unknown for deletion/duplication analysis.
Methodology: Bidirectional sequencing of the entire FBN1 coding region and intron-exon boundaries. Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large FBN1 coding region deletions/duplications.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. Large deletions/duplications of exon 40 may or may not be detected depending on the location of breakpoints. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than FBN1 are not evaluated.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
2005585Marfan Syndrome (FBN1) Seq, Del/Dup Spcm31208-2
2005586Marfan Syndrome (FBN1) Seq, Del/Dup Int40471-5
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • FBN1 genetic
  • FBN1 Sequencing and Deletion/Duplication
  • FBN1 sequencing and deletion/duplication assay