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Test Code
C1670
Test Name
Supravalvular Aortic Stenosis
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of supravalvular aortic stenosis (SVAS) caused by the 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. Recommended for individuals with a personal and/or family history of supravalvular aortic stenosis to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
SVAS
Description

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 to be highly variable.  SVAS is generally thought to be due to ELN haploinsufficency.  ELN mutations also cause cutis laxa, autosomal dominant 1 (ADCL1; MIM 123700); however, ADCL1 is typically due to mutations in the 3'-end of ELN that result in an elongated elastin protein.  Microdeletions including ELN and adjacent genes cause Williams-Beuren syndrome (WBS; MIM 194050), a contiguous gene syndrome whose primary features include SVAS, hypercalcemia, intellectual disability, and characteristic facial features and behavioral patterns.
Testing Schedule
Monday-Friday
Genes
ELN
MIM
185500
Disease Group
Cardiovascular Disorders, Dysmorphology
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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