Disorders

Genetic Prion Diseases

Synonym(s): Transmissible Spongiform Encephalopathies (TSEs)

Gene	Locus	Protein
PRNP	20p13	Major prion protein

Laboratory	Test Method	Prenatal	Carrier *
Burc Molecular Genetics Laboratory - Istanbul, Turkey
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, 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.