GTR Home > Tests > Marfan Syndrome (FBN1)

Overview

Test order codeHelp: Marfan syndrome FBN1, MFS1

Test name

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Marfan Syndrome (FBN1) (FBN1 MFS MFS1)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Screening

Condition

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4 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3730 capillary sequencing instrument
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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EDTA-blood, DNA, other peripheral whole blood samples (not frozen). Other specimen after consultation.
Order URL Help: http://www.labmed.de/en/requirements-1626.html

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Result interpretation
  • Custom mutation-specific/Carrier testing

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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