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 Gene CPT Codes Copy CPT Codes
5251 ACTA2 81405,81479 Order Options and Pricing
COL3A1 81479,81479
FBN1 81408,81479
FOXE3 81479,81479
LOX 81479,81479
MAT2A 81479,81479
MFAP5 81479,81479
MYH11 81408,81479
MYLK 81479,81479
NOTCH1 81407,81479
PRKG1 81479,81479
SMAD3 81479,81479
SMAD4 81406,81405
TGFB2 81479,81479
TGFB3 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5251Genes x (17)81479 81405, 81406, 81407, 81408, 81479 $640 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available.

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 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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.

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

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.

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 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.

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