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

Gene	Locus	Protein
NOTCH1	9q34.3	Neurogenic 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.