Disorders


 

PLN-Related Familial Hypertrophic Cardiomyopathy


 

OMIM

GeneLocusProtein
PLN6q22.1Cardiac phospholamban

Laboratory Test Method Prenatal Carrier *
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA• Sequence analysis of the entire coding region
  
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• 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
 
University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH) - Münster, Germany• 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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