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Thoracic Aortic Aneurysm and Dissection (TAAD) via the PRKG1 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
5277 PRKG1 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5277PRKG181479 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

Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening disease affecting the aorta and is the 15th leading cause of death in the United States (Hoyert et al. 2001). The major manifestations of TAAD include dilatation of the aorta, aortic aneurysms and aortic dissection. Aortic dissections most commonly originate in the ascending aorta above the aortic valve (Stanford type A), but also can occur in the descending aorta (Standford type B). Aneurysms in the cerebral and peripheral artery and abdominal aorta have also been observed (Milewicz and Regalado 2012). An intense sharp pain in the chest is the most common symptom of aortic dissection. Familial TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta using imaging studies (MRI, echocardiography, CT), the absence of syndromic conditions that have clinical features the overlap with familial TAAD, such as Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, and a positive family history. Up to 20% of individuals with TAAD have a first-degree relative with TAAD (Biddinger et al. 1997; Albornoz et al. 2006). Aortic imaging is recommended in first degree relatives of individuals with TAAD (Milewicz and Regalado 2012). Age of onset of dilatation is variable within families.

Genetics

TAAD is a genetically heterogeneous disorder with reduced penetrance and variable expressivity. Pathogenic variants in at least 10 genes, including PRKG1, have been found to be associated with autosomal dominant TAAD (Guo et al. 2013; Gago-Diaz et al. 2016). One missense variant, c.530G>A (p.Arg177Gln), has been shown to segregate with TAAD in five families (Guo et al. 2013; Gago-Diaz et al. 2016). Individuals with the c.530G>A (p.Arg177Gln) variant had early-onset TAAD (Guo et al. 2013; Gago-Diaz et al. 2016). PRKG1 encodes a cGMP-dependent protein kinase which controls smooth muscle relaxation (Pfeifer et al. 1998).

Clinical Sensitivity - Sequencing with CNV PG-Select

Clinical sensitivity for PRKG1 is predicted to be low; one study found the c.530G>A (p.Arg177Gln) variant in three out of 362 families (Guo et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the PRKG1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Patients with autosomal dominant familial TAAD.

Gene

Official Gene Symbol OMIM ID
PRKG1 176894
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Aortic Aneurysm, Familial Thoracic 8 AD 615436

Related Test

Name
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel

Citations

  • Albornoz G. et al. 2006. The Annals of Thoracic Surgery. 82: 1400-5 PubMed ID: 16996941
  • Biddinger A. et al. 1997. Journal of Vascular Surgery. 25: 506-11. PubMed ID: 9081132
  • Gago-Diaz M. et al. 2016. European Journal of Clinical Investigation 46: 787-94 PubMed ID: 27442293
  • Guo D.C. et al. 2013. American Journal of Human Genetics. 93: 398-404. PubMed ID: 23910461
  • Hoyert D.L. et al. 2001. National Vital Statistics Reports. 49: 1-113. PubMed ID: 11591077
  • Milewicz D, Regalado E. 2012. Thoracic Aortic Aneurysms and Aortic Dissections. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301299
  • Pfeifer A. et al. 1998. The EMBO Journal. 17: 3045-51. PubMed ID: 9606187

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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