GTR Home > Tests > Marfan Syndrome (FBN1) Sequencing


Test order codeHelp: 2005589

Test name


Marfan Syndrome (FBN1) Sequencing (FBN1 FGS)

Purpose of the test


This is a clinical test intended for Help: Diagnosis



8 conditions tested. Click Indication tab for more information.


Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.


Clinical validity


Clinical Sensitivity: 70-93 percent.


Not provided

Clinical utility


Not provided

How to order


Collect: Lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B). Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL) Storage/Transport Temperature: Refrigerated. Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable ARUP test-request forms are specific to each client laboratory or hospital and are thus not available on the ARUP website. However, they are available through the client hospital/laboratory sendout department. ARUP patient history form is required for ARUP to perform Marfan syndrome genetic testing and/or interpret patient results and should accompany each genetic test order. Genetic counseling and informed consent are recommended for genetic testing. Consent forms for genetic testing may be found on the ARUP website at:
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 2001961, comments
  • Confirmation of research findings, Order code: 2001961, comments

Suggested reading

Practice guidelines

  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • ACMG, 2015
    ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
  • ESC, 2014
    2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
  • CCS, 2014
    Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • ACMG, 2012
    Evaluation of the adolescent or adult with some features of Marfan syndrome.
  • CSANZ, 2007
    Guidelines for the diagnosis and management of Marfan syndrome.
  • Orphanet, 2007
    Orphanet, Marfan Syndrome, 2007
  • AHA, 2004
    Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
  • AAP, 1996
    Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
  • EuroGenetest, 2010
    Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

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