GTR Home > Tests > FMF research

Overview

Test name

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FMF research (MEFV research)

Purpose of the test

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Contribute to generalizable knowledge

Condition

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1 condition tested. Click Condition 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 is tested

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

Genes

Description of study

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Detection of mutations in MEFV gene by sequencing the entire coding sequence and splice sites

Researchers

Person responsible for the studyHelpHatem El-Shanti, MD, ABMG, DABMG, Lab Director
Study contactHelpHatem El-Shanti, MD, ABMG, DABMG, Lab Director, elshantih@smgc.org.qa, +974 4495-6244 (phone), +974 4495-6223 (fax)

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

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