Disorders


 

ANO5-Related Muscle Diseases


Synonym(s): Anoctaminopathy

 

GeneReviewOMIM

GeneLocusProtein
ANO511p15.1Anoctamin-5

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
 
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
HIBM Research Group - Reseda, CA, USA• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• 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
 
Praxis fuer Humangenetik Wien - Vienna, Austria• 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

* 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...