Disorders

EFHC1-Related Juvenile Myoclonic Epilepsy

Gene	Locus	Protein
EFHC1	6p12.3	EF-hand domain-containing protein 1

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
CeGaT GmbH - Tuebingen, Germany
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
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

^* 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.