Disorders


 

SCN1A-Related Seizure Disorders


 

GeneReviewOMIM

GeneLocusProtein
SCN1A2q24.3Sodium channel protein type 1 subunit alpha

Laboratory Test Method Prenatal Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
bio.logis Center for Human Genetics - Frankfurt, Germany  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Linkage analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany• Mutation scanning of the entire coding region
  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
InVitae Corporation - San Francisco, CA, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Secugen SL - Madrid, Spain  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Transgenomic - New Haven, CT, USA  
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain  
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands  
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.

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