Invitae Aortopathy Comprehensive Panel


Test description

This test is a comprehensive analysis of genes associated with inherited aortopathy and related connective tissue disorders. The Invitae Aortopathy Comprehensive Panel includes genes that are associated with isolated thoracic aortic aneurysms and/or dissections (TAAD) and multi-system disorders that have may have aortopathy as one feature. Given the clinical overlap between different aortopathy conditions, comprehensive testing enables a more efficient evaluation of multiple disorders based on a single indication.

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Primary panel (23 genes)


Add-on preliminary-evidence gene (2 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.


  • Ehlers-Danlos syndrome classic and vascular types
  • Loeys-Dietz syndrome (LDS)
  • Marfan syndrome and other FBN1-related conditions
  • thoracic aortic aneurysms and/or dissections (TAAD)

Genes on this panel are also associated with other disorders

Aortopathy is a disease of the aorta. Aortopathy can be seen as an isolated feature or as part of a syndromic condition. Thoracic aortic aneurysms and dissections (TAAD) are characterized by dilatation of the ascending thoracic aorta at the level of the sinuses of Valsalva and/or ascending aorta and dissection of either the ascending or descending thoracic aorta. Aortopathy can be a presenting feature of multiple connective tissue disorders, including Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome. Additional disorders without aortopathy as a primary disease characteristic can manifest with similar or overlapping non-cardiac features associated with these connective tissue disorders.

The clinical sensitivity of this test is dependent on the underlying condition. For each condition, the chart below shows the percentage of clinical cases in which a pathogenic variant is expected to be identified in one of the genes on this panel. The clinical sensitivity is unknown for individuals with borderline or non-specific aortopathy.

Clinical sensitivity by underlying condition
TAAD Marfan syndrome Loeys-Dietz syndrome Ehlers-Danlos syndrome (vascular type)
9%-20% 70%-93% 80%-90% 90%-95%

The majority of aortopathy conditions are inherited in an autosomal dominant pattern. FLNA-related and MED12-related disorders are X-linked. Homocystinuria due to CBS deficiency, EFEMP2-related aortopathy and/or cutis laxa and SLC2A10-related arterial tortuosity syndrome are inherited in an autosomal recessive manner.

The most common causes of inherited aortopathy exhibit reduced penetrance, meaning that not everyone who inherits a predisposition to aortopathy will develop the disease. The age of onset and presenting symptoms of TAAD and related connective disorders are variable.

While aortic aneurysms are common worldwide, the exact prevalence is unknown, as they usually cause no symptoms unless they rupture. The prevalence of Marfan syndrome is 1 in 5,000 to 1 in 10,000. The prevalence of EDS, vascular type, is ~1 in 200,000.

This test may be considered for individuals with:

  • isolated TAAD
  • TAAD with clinical signs of a syndromic form of aortopathy

For links to published management guidelines for cardiology conditions, please refer to our Management guidelines page.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACTA2 NM_001613.2
CBS NM_000071.2
COL3A1 NM_000090.3
COL5A1 NM_000093.4
COL5A2 NM_000393.3
EFEMP2 NM_016938.4
FBN1 NM_000138.4
FBN2 NM_001999.3
FLNA NM_001456.3
MAT2A NM_005911.5
MED12 NM_005120.2
MYH11 NM_001040113.1
MYLK NM_053025.3
NOTCH1 NM_017617.3
PLOD1 NM_000302.3
PRKG1 NM_006258.3
SKI NM_003036.3
SLC2A10 NM_030777.3
SMAD3 NM_005902.3
SMAD4 NM_005359.5
SMAD6 NM_005585.4
TGFB2 NM_003238.3
TGFB3 NM_003239.3
TGFBR1 NM_004612.2
TGFBR2 NM_003242.5, NM_001024847.2