Disorders


 

Left Ventricular Outflow Tract Obstruction (LVOTO)


Synonym(s): Aortic Stenosis, Aortic Valve Disease, Bicuspid Aortic Valve, Coarctation of the Aorta, Hypoplastic Left Heart, Interupted Aortic Arch Type A

 

OMIM

GeneLocusProtein
NOTCH19q34.3Neurogenic locus notch homolog protein 1

Laboratory Test Method Prenatal Carrier *
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA• Sequence analysis of the entire coding region
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• Sequence analysis of the entire coding region
 
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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