Disorders


 

MAPT-Related Disorders


Synonym(s): MAPT-Related Tauopathies, Multiple System Tauopathy with Presenile Dementia

 

GeneReviewOMIM

GeneLocusProtein
MAPT17q21Microtubule-associated protein tau

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
CeGaT GmbH - Tuebingen, Germany  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA  
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany• Sequence analysis of select exons
  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Sequence analysis of select exons
• Mutation scanning of the entire coding region
  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Sequence analysis of select exons
  
Secugen SL - Madrid, Spain  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
University of Pennsylvania School of Medicine, Molecular Pathology Laboratory - Philadelphia, PA, USA• Sequence analysis of select exons
  

* 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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