Disorders


 

TCAP-Related Familial Hypertrophic Cardiomyopathy


 

OMIM

GeneLocusProtein
TCAP17q12Telethonin

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
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
Maastricht University Medical Centre, Clinical Genomics - Maastricht, 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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