Disorders


 

X-Linked Centronuclear Myopathy


Synonym(s): XLCNM, X-Linked Myotubular Myopathy, XLMTM

 

GeneReviewOMIM

GeneLocusProtein
MTM1Xq27.3-q28Myotubularin

Laboratory Test Method Prenatal Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic• Sequence analysis of the entire coding region
• Sequence analysis of select exons
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands• Sequence analysis of the entire coding region
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
CHRU - Nouvel Hopital Civil, Laboratoire Diagnostic Genetique - Strasbourg, France• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Sequence analysis of the entire coding region
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
 
Liverpool Women's Hospital, Mersey Regional Molecular Genetics Laboratory - Liverpool, Great Britain• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy• Sequence analysis of the entire coding region
• Linkage analysis
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.

Loading...