Disorders


 

Epileptic Encephalopathy, Early Infantile, 9


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

 

OMIM

GeneLocusProtein
PCDH19Xq22.1Protocadherin-19

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

* 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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