Disorders


 

CHRNA2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant


Synonym(s): ADNFLE Type 4, Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Type 4, CHRNA2-Related ADNFLE

 

OMIM

GeneLocusProtein
CHRNA28p21Neuronal acetylcholine receptor subunit alpha-2

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, 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
 
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• 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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