Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYLK 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 | |
|---|---|---|---|---|---|
| 3209 | MYLK | 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. 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 at least 10 genes, including MYLK, have been found to be associated with autosomal dominant TAAD or related disorders (Wang et al. Am J Hum Genet 87:701-707, 2010). Mutations in MYLK, which are most often missense mutations, are a minor cause of familial TAAD.
Clinical Sensitivity - Sequencing with CNV PG-Select
This test will detect mutations in ~1-2% of patients with familial TAAD (Wang et al. Am J Hum Genet 87:701-707, 2010).
Testing Strategy
This test provides full coverage of all coding exons of the MYLK 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 without mutations in ACTA2.
Patients with autosomal dominant familial TAAD without mutations in ACTA2.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| MYLK | 600922 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Aortic Aneurysm, Familial Thoracic 7 | AD | 613780 |
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
- Wang et al. (2010) "Mutations in myosin light chain kinase cause familial aortic dissections." Am J Hum Genet 87:701-7. PubMed ID: 21055718
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
Loading...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.