Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 5251 | Genes x (17) | 81479 | 81405(x4), 81406(x1), 81407(x1), 81408(x2), 81479(x26) | $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. PubMed ID: 11591077). 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. PubMed ID: 20301299). 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 that 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. PubMed ID: 9081132; Albornoz et al. 2006. PubMed ID: 16996941). Aortic imaging is recommended in first degree relatives of individuals with TAAD (Milewicz and Regalado. 2012. PubMed ID: 20301299). Age of onset of dilatation is variable within families.
Genetics
TAAD is a genetically heterogeneous disorder with incomplete penetrance and variable expressivity. Pathogenic variants in ACTA2, COL3A1, FBN1, FOXE3, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2 have been found to be involved in autosomal dominant TAAD or related disorders (Milewicz and Regalado. 2012. PubMed ID: 20301299; Milewicz and Regalado. 2015. PubMed ID: 25218541). Bicuspid aortic valve, patent ductus arteriosus, or intracranial aneurysm segregates with TAAD in some families (Zhu et al. 2006. PubMed ID: 16444274; Guo et al. 2007. PubMed ID: 17994018; van de Laar et al. 2011. PubMed ID: 21217753; Regalado et al. 2011. PubMed ID: 21778426).
See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.
Clinical Sensitivity - Sequencing with CNV PG-Select
This test will detect a pathogenic variant in ~30% of individuals with a family history of thoracic aortic aneurysm and dissection (TAAD) without a diagnosis of Marfan syndrome, Loeys-Dietz syndrome, or Ehlers Danlos syndrome (Milewicz and Regalado. 2012. PubMed ID: 20301299).
Testing Strategy
This panel provides 100% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing.
Indications for Test
Candidates for this test are patients with autosomal dominant familial TAAD.
Candidates for this test are patients with autosomal dominant familial TAAD.
Genes
| Official Gene Symbol | OMIM ID |
|---|---|
| ACTA2 | 102620 |
| COL3A1 | 120180 |
| FBN1 | 134797 |
| FOXE3 | 601094 |
| LOX | 153455 |
| MAT2A | 601468 |
| MFAP5 | 601103 |
| MYH11 | 160745 |
| MYLK | 600922 |
| NOTCH1 | 190198 |
| PRKG1 | 176894 |
| SMAD3 | 603109 |
| SMAD4 | 600993 |
| TGFB2 | 190220 |
| TGFB3 | 190230 |
| TGFBR1 | 190181 |
| TGFBR2 | 190182 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
Related Test
| Name |
|---|
| PGxome® |
Citations
- Albornoz et al. 2006. PubMed ID: 16996941
- Biddinger et al. 1997. PubMed ID: 9081132
- Guo et al. 2007. PubMed ID: 17994018
- Hoyert et al. 2001. PubMed ID: 11591077
- Milewicz and Regalado. 2012. PubMed ID: 20301299
- Milewicz and Regalado. 2015. PubMed ID: 25218541
- Regalado et al. 2011. PubMed ID: 21778426
- van de Laar et al. 2011. PubMed ID: 21217753
- Zhu et al. 2006. PubMed ID: 16444274
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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2) Select Additional Test Options
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