Acceptable test to confirm diagnosis for individuals with clinical phenotype of Marfan syndrome.
Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background information for Marfan Syndrome, FBN1 Sequencing:
Characteristics: 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 specific 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.
Methodology: Bidirectional sequencing of the entire FBN1 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations and large deletions/duplications will not be detected. Mutations in genes other than FBN1 are not evaluated.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2005590||Marfan Syndrome (FBN1) Seq Specimen|
|2005591||Marfan Syndrome (FBN1) Seq Interp||77114-7|
- FBN1 genetic
- FBN1 Sequencing
- FBN1 sequencing and deletion/duplication assay