Disorders


 

Friedreich Ataxia


Synonym(s): FRDA

 

GeneReviewOMIM

GeneLocusProtein
FXN9q21.11Frataxin, mitochondrial

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Targeted mutation analysis
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Targeted mutation analysis
 
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey• Targeted mutation analysis
 
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Targeted mutation analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India• Targeted mutation analysis
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Targeted mutation analysis
CGC Genetics - Porto, Portugal• Targeted mutation analysis
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Linkage analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
GENDA - Ciudad autonoma de Buenos Aires, Argentina• Targeted mutation analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Targeted mutation analysis
• Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada• Targeted mutation analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Targeted mutation analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
InterGenetics - Diagnostic Genetic Center, InterGenetics - Athens, Greece• Targeted mutation analysis
Istituto di Farmacologia Traslazionale - CNR, Laboratorio di Neurogenetica - Roma, Italy• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada• Targeted mutation analysis
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Targeted mutation analysis
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Protein analysis
Medgene, MedGene - Bratislava, Slovakia• Targeted mutation analysis
 
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Targeted mutation analysis
North York General Hospital, Molecular Genetics Laboratory - Toronto, Canada• Targeted mutation analysis
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
 
Ruhr University, Human Genetics - Bochum, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
 
Rush University Medical Center, Genetics Laboratory - Department of Pathology - Chicago, IL, USA• Targeted mutation analysis
 
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Targeted mutation analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Targeted mutation analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA• Targeted mutation analysis
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland• Targeted mutation analysis
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
University of California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA• Targeted mutation analysis
University of Goettingen, Institute of Human Genetics - Goettingen, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Targeted mutation analysis

* 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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