GTR Home > Tests > Familial Mediterranean Fever

Overview

Test name

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Familial Mediterranean Fever (FMF)

Purpose of the test

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

Condition

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1 condition 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
  • Applied Biosystems 3130 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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Order URL Help: https://www.biologis.com/client_service/request-order

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Genetic counseling
  • Maternal cell contamination study (MCC)
  • Result interpretation
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • SHARE, 2015
    Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
  • Hentgen et al., 2013
    Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
  • Orphanet, 2013
    Orphanet, Familial Mediterranean fever, 2013
  • EMQN, 2012
    Guidelines for the genetic diagnosis of hereditary recurrent fevers

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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