Disorders


 

SEPN1-Related Myopathy


Synonym(s): Congenital Muscular Dystrophy with Early Spine Rigidity, Rigid Spine Syndrome, RSS

 

OMIM

GeneLocusProtein
SEPN11p36.13Selenoprotein N

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Groupe Hospitalier Pitié Salpêtrière, Molecular and Cellular Cardiogenetics and Myogenetics Unit - Paris, France• Sequence analysis of the entire coding region
 
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
 
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, 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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