Disorders


 

Paramyotonia Congenita of Von Eulenburg


Synonym(s): PC

 

OMIM

GeneLocusProtein
SCN4A17q23.3Sodium channel protein type 4 subunit alpha

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
 
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
 
CGC Genetics - Porto, Portugal• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
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 the entire coding region
• Sequence analysis of select exons
• Targeted mutation analysis
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
 
Mission Hospital, Fullerton Genetics Center - Asheville, NC, USA• Sequence analysis of the entire coding region
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic• Sequence analysis of the entire coding region
 
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.

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