Disorders


 

TNNI3-Related Familial Restrictive Cardiomyopathy


 

OMIM

GeneLocusProtein
TNNI319q13.4Troponin I, cardiac muscle

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Sequence analysis of the entire coding region
  
CGC Genetics - Porto, Portugal• Sequence analysis of select exons
 
GeneDx - Gaithersburg, MD, USA• Deletion/duplication analysis
 
Health in Code S.L. - A Coruña, Spain• Sequence analysis of the entire coding region
 
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• 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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