Disorders

Epileptic Encephalopathy, Early Infantile, 9

Synonym(s): EIEE9, PCDH19-Related EFMR, PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation

Gene	Locus	Protein
PCDH19	Xq22.1	Protocadherin-19

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Cretan Center for Research and Development of Applications on Genetics and Molecular Biology, DNAbiolab - Heraklion, Greece	• Sequence analysis of select exons
diagenos - Osnabrueck, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Praxis fuer Humangenetik Wien - Vienna, Austria
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Secugen SL - Madrid, Spain
Transgenomic - New Haven, CT, USA
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.