GTR Home > Tests > Marfan Syndrome (FBN1) Sequencing

Overview

Test order codeHelp: 2005589

Test name

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Marfan Syndrome (FBN1) Sequencing (FBN1 FGS)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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8 conditions tested. Click Indication tab for more information.

Methodology

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

Summary of what tested

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

Genes and variants

Clinical validity

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Clinical Sensitivity: 70-93 percent.

Citations

Not provided

Clinical utility

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Not provided

How to order

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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 http://www.aruplab.com/guides/ug/tests/iconpdf_84.pdf 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: http://www.aruplab.com/genetics/resources/consent.
Order URL Help: http://www.aruplab.com/genetics/ordering

Test services

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

Suggested reading

Clinical resources

Practice guidelines

  • 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]

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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