Disorders


 

Autosomal Dominant Familial Periodic Fever


Synonym(s): Familial Hibernian Fever, Familial Periodic Fever, TRAPS, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome

 

OMIM

GeneLocusProtein
TNFRSF1A12p13.2Tumor necrosis factor receptor superfamily member 1A

Laboratory Test Method Prenatal Carrier *
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France• Sequence analysis of select exons
• Mutation scanning of the entire coding region
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
GeneDx - Gaithersburg, MD, USA• Sequence analysis of select exons
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands  

* 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.

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