Disorders


 

CFC1-Related Conotruncal Heart Malformations


 

OMIM

GeneLocusProtein
CFC12q21.2Cryptic protein

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

* 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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