Disorders


 

GABRD-Related Generalized Epilepsy with Febrile Seizures Plus


Synonym(s): GEFS+ Type 5

 

OMIM

GeneLocusProtein
GABRD1p36.3Gamma-aminobutyric acid receptor subunit delta

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
diagenos - Osnabrueck, Germany• 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
 
Praxis fuer Humangenetik Wien - Vienna, Austria• 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.

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