Disorders

MAPT-Related Disorders

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

Gene	Locus	Protein
MAPT	17q21	Microtubule-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.