Disorders


 

CAV3-Related Sudden Infant Death Syndrome


Synonym(s): CAV3-Related SIDS

 

OMIM

GeneLocusProtein
CAV33p25Caveolin-3

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, 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
 
GeneDx - Gaithersburg, MD, USA• Deletion/duplication analysis
 
Health in Code S.L. - A Coruña, Spain• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, 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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