Mutations in NOTCH1 can cause aortic valve disease 1 (AOVD1; MIM 109730), which is an autosomal dominant disorder. AOVD1 is characterized by bicuspid aortic valve. Bicuspid aortic valve frequently leads to aortic valve stenosis or insufficiency. Other associated findings can include hypoplastic left heart syndrome, coarctation of the aorta or aortic dilation / more

Tests Available

By gene: NOTCH1
Next Generation Sequencing
Test Code: 1939
Deletion / Duplication
Test Code: 1940
NGS/Del Dup Comprehensive
Test Code: 1941

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
CPT Codes: 
81407 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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