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Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYH11 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
MYH11 81408 81408,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3187MYH1181408 81408,81479 $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.

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. Natl Vital Stat Rep 49:1-113, 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 et al. GeneTests). 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. J Vasc Surg 25:506-511, 1997; Albornoz et al. Ann Thorac Surg 82:1400-5, 2006). Aortic imaging is recommended in first degree relatives of individuals with TAAD (Milewicz et al. GeneTests). Age of onset of dilatation is variable within families.

Genetics

TAAD is a genetically heterogeneous disorder with reduced penetrance and variable expressivity. Mutations in more than 10 genes (ACTA2, TGFBR1, TGFBR2, FBN1, FBN2, COL3A1, COL5A1, COL5A2, MYH11, MYLK, SMAD3), including MYH11, have been found to be associated with autosomal dominant TAAD or related disorders. Mutations in MYH11 have been found in patients with TAAD and patent ductus arteriosus (PDA) (Zhu et al. Nat Genet 38:343-349, 2006, Pannu et al. Hum Mol Genet 16:2453-2462, 2007).

Clinical Sensitivity - Sequencing with CNV PG-Select

This test will detect mutations in ~1% of patients with familial TAAD (Pannu et al. Hum Mol Genet 16:2453-62, 2007).

Testing Strategy

This test provides full coverage of all coding exons of the MYH11 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 TAAD and PDA.

Gene

Official Gene Symbol OMIM ID
MYH11 160745
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Aortic Aneurysm, Familial Thoracic 4 AD 132900

Related Tests

Name
Comprehensive Cardiology Panel
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel

Citations

  • Albornoz et al. (2006) "Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns." Ann Thorac Surg 82:1400-5. PubMed ID: 16996941
  • Biddinger et al. (1997) "Familial thoracic aortic dilatations and dissections: a case control study." J Vasc Surg 25:506-11. PubMed ID: 9081132
  • Hoyert DL, Arias E, Smith BL, Murphy SL, Kochanek KD. 2001. Deaths: final data for 1999. Natl. Vital. Stat. Rep. 49:1-113. PubMed ID: 11591077
  • Milewicz D, Regalado E. 2012. Thoracic Aortic Aneurysms and Aortic Dissections. GeneReviews. PubMed ID: 20301299
  • Pannu H, et al. (2007) "MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II." Hum Mol Genet 16:245362. PubMed ID: 17666408
  • Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X. 2006. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat. Genet. 38:343-349. 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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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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