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Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4393 ELN 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4393ELN81479 81479,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Supravalvular aortic stenosis is a congenital narrowing of the ascending aorta. The narrowing of the aorta can lead to shortness of breath, chest pain and heart failure. Supravalvular aortic stenosis can occur as an isolated condition or as one feature of Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a microdeletion of ~1.5 mb at 7q11.23 that encompasses 25 genes including the ELN gene. Isolated or non-syndromic Supravalvular aortic stenosis has an incidence of ~1 in 20,000 live births (Metcalfe et al. Eur J Hum Genet 8:955-963, 2000). Autosomal dominant cutis laxa is characterized by loose, sagging skin resulting in a premature aged appearance. Occasionally, aortic aneurysms and obstructive pulmonary disease are present (Callewaert et al. Hum Mutat 32:445-455, 2011).

Genetics

ELN encodes for tropoelastin, a major component of elastin, which provides strength and flexibility to elastic fibers. Autosomal dominant supravalvular aortic stenosis (SVAS) is caused by point mutations or intragenic deletions of the ELN gene resulting in haploinsufficiency of the elastin protein (Li et al. Hum Mol Genet 6(7):1021-1028, 1998; Metcalfe et al., 2000; Micale et al. Eur J Hum Genet 18:317-323, 2010). Individuals with SVAS have connective tissue abnormalities, and do not have other features of Williams syndrome. Autosomal dominant cutis laxa is caused by frameshift mutations in the ELN gene, which produces an abnormal tropoelastin protein that functions in a dominant-negative manner (Tassabehji et al. Hum Mol Genet 7(6):1021-1028, 1998; Callewaert et al., 2011).

Clinical Sensitivity - Sequencing with CNV PG-Select

The clinical sensitivity of this test is 22%-35% for patients with SVAS without Williams syndrome (Metcalfe et al. Eur J Hum Genet 8:955-963, 2000; Micale et al. Eur J Hum Genet 18:317-323, 2010). Callewaert et al. found five de novo heterozygous frameshift variants in five probands with autosomal dominant cutis laxa (Callewaert et al. Hum Mutat 32:445-455, 2011)). This test will only detect copy number changes in the ELN gene, and therefore will not be able to determine how many additional genes are deleted or the breakpoints in patients with Williams syndrome.

Testing Strategy

This test provides full coverage of all coding exons of the ELN gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are individuals with autosomal dominant supravalvular aortic stenosis without a 7q11.23 microdeletion or individuals with autosomal dominant cutis laxa.

Gene

Official Gene Symbol OMIM ID
ELN 130160
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
Comprehensive Cardiology Panel

Citations

  • Callewaert et al. (2011). PubMed ID: 21309044
  • Li et al. (1997). PubMed ID: 9215670
  • Metcalfe et al. (2000). PubMed ID: 11175284
  • Micale et al. (2010). PubMed ID: 19844261
  • Tassabehji et al. (1998). PubMed ID: 9580666

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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