Disorders

GABRD-Related Generalized Epilepsy with Febrile Seizures Plus

Synonym(s): GEFS+ Type 5

Gene	Locus	Protein
GABRD	1p36.3	Gamma-aminobutyric acid receptor subunit delta

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
diagenos - Osnabrueck, Germany
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
Transgenomic - New Haven, CT, 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.