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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 5277 | PRKG1 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks 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.
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.
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 |
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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