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 / aneurysm.read more

Tests Available

By gene: NOTCH1
Next Generation Sequencing
$990
Test Code: 1939
Deletion / Duplication
$990
Test Code: 1940
NGS/Del Dup Comprehensive
$1,365
Test Code: 1941

Test Details

Technical Information
Genes: 
NOTCH1
Disease Groups: 
Cardiovascular Disorders
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
MIM: 
109730
Billing
Price: 
$990
CPT Codes: 
81407 x 1
Ordering
SKU:
1939
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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