Disorders


 

Familial Transthyretin Amyloidosis


 

GeneReviewOMIM

GeneLocusProtein
TTR18q12.1Transthyretin

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark  
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands  
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of select exons
  
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal• Targeted mutation analysis
  
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA  
Correlagen Diagnostics, Inc. - Westborough, MA, USA  
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus• Targeted mutation analysis
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Targeted mutation analysis
  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA  
Health in Code S.L. - A Coruña, Spain  
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Kingston General Hospital, Molecular Diagnostic Laboratory - Kingston, Canada  
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Protein analysis
  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of select exons
  
University Health Network, Molecular Diagnostics Laboratory - Toronto, Canada  
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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