Disorders


 

GABRG2-Related Dravet Syndrome


Synonym(s): GABRG2-Related Severe Myoclonic Epilepsy of Infancy

 

OMIM

GeneLocusProtein
GABRG25q34Gamma-aminobutyric acid receptor subunit gamma-2

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Secugen SL - Madrid, Spain• Sequence analysis of the entire coding region
 
Transgenomic - New Haven, CT, USA• Sequence analysis of the entire coding region
 

* 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.

Loading...