Disorders

Paramyotonia Congenita of Von Eulenburg

Synonym(s): PC

Gene	Locus	Protein
SCN4A	17q23.3	Sodium channel protein type 4 subunit alpha

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada	• Sequence analysis of select exons
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA	• Sequence analysis of select exons • Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Mission Hospital, Fullerton Genetics Center - Asheville, NC, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic
University of Turku, Diagnostic DNA Laboratory - Turku, Finland	• Targeted mutation analysis

^* 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.