Disorders


 

Centronuclear Myopathy 1


Synonym(s): Centronuclear Myopathy, Autosomal Dominant, CNM1, Myotubular Myopathy, Autosomal Dominant

 

OMIM

GeneLocusProtein
DNM219pDynamin-2

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
CHRU - Nouvel Hopital Civil, Laboratoire Diagnostic Genetique - Strasbourg, France• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Deletion/duplication analysis
 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
 
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
 
HIBM Research Group - Reseda, CA, USA• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• 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
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication 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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