Supravalvular aortic stenosis (SVAS; MIM 185500) is an autosomal dominant disorder caused by mutations in the elastin (ELN) gene.  The wall of the aorta is greatly thickened in SVAS resulting in narrowing of the ascending aorta.  In addition to SVAS, many patients also have peripheral pulmonary stenosis and some patients may exhibit stenoses of other arteries.  Considerable intrafamilial phenotypic variation has been observed and the penetrance is reported toread more

Tests Available

By gene: ELN
Next Generation Sequencing
Test Code: 1668
Deletion / Duplication
Test Code: 1669
NGS/Del Dup Comprehensive
Test Code: 1670

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
CPT Codes: 
81479 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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