Disorders


 

Myotonia Congenita


 

GeneReviewOMIM

GeneLocusProtein
CLCN17q12Chloride channel protein, skeletal muscle

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
CeGaT GmbH - Tuebingen, Germany  
diagenos - Osnabrueck, Germany  
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  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Mission Hospital, Fullerton Genetics Center - Asheville, NC, USA  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy  
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic  

* 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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