Disorders

Familial Mediterranean Fever

Synonym(s): Recurrent Polyserositis

Gene	Locus	Protein
MEFV	16p13.3	Pyrin

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada
bio.logis Center for Human Genetics - Frankfurt, Germany
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• Sequence analysis of select exons
Burc Molecular Genetics Laboratory - Istanbul, Turkey	• Targeted mutation analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal	• Sequence analysis of select exons
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France	• Sequence analysis of select exons • Mutation scanning of the entire coding region
Cretan Center for Research and Development of Applications on Genetics and Molecular Biology, DNAbiolab - Heraklion, Greece
Cyprus Institute of Neurology and Genetics, Molecular Genetics, Function and Therapy - Nicosia, Cyprus	• Sequence analysis of select exons • Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of select exons
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Sequence analysis of select exons • Targeted mutation analysis
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons
Intergen Genetics Centre - Ankara, Turkey	• Sequence analysis of select exons • Targeted mutation analysis
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• Sequence analysis of select exons
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of select exons
Laboratory for Molecular Genetics, Labor Renner - Kainbach bei Graz, Austria	• Sequence analysis of select exons
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• Sequence analysis of select exons • Targeted mutation analysis
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Targeted mutation analysis
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel	• Sequence analysis of select exons • Targeted mutation analysis • Linkage analysis
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland	• Targeted mutation analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA	• Targeted mutation analysis
University of California Los Angeles, UCLA Orphan Disease Testing Center (ODTC) - Los Angeles, CA, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.