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  • Test code: 02301
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Aortopathy Comprehensive Panel

Test description

This test is a comprehensive analysis of genes associated with inherited aortopathy and related conditions. The Invitae Aortopathy Comprehensive Panel includes genes that are associated with isolated thoracic aortic aneurysms and dissections (TAAD) and multi-system disorders that 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.

For broad panel testing on connective tissue disorders, please refer to the Invitae Connective Tissue Disorders Panel under the Pediatric and Rare Disease clinical area. The Invitae Connective Tissue Disorders Panel cannot be combined with other Cardiology panels either at initial order or re-requisition at this time.

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Primary panel (29 genes)

ACTA2 ADAMTS10 BGN CBS COL3A1 COL5A1 COL5A2 EFEMP2 FBN1 FBN2 FLNA FOXE3 LOX MED12 MFAP5 MYH11 MYLK NOTCH1 PLOD1 PRKG1 SKI SLC2A10 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2

Add-on Preliminary-evidence Genes for Aortopathy (6 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 genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.

ARIH1 HCN4 LTBP3 MAT2A PLOD3 SMAD6

Alternative tests to consider

There can be significant overlap between connective tissue disorders. Connective tissue disorders are often multi-systemic, involving the bones, joints, blood vessels, skin, eyes, and other organs. The Invitae Connective Tissue Disorders Panel analyzes genes that are associated with inherited disorders of connective tissue, including but not limited to Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, thoracic aortic aneurysm and dissection, cutis laxa, Stickler syndrome, fibrodysplasia ossificans progressiva, and osteogenesis imperfecta. The Invitae Connective Tissue Disorders Panel cannot be combined with other Cardiology panels either at initial order or re-requisition at this time.

  • Arterial tortuosity syndrome
  • Congenital contractural arachnodactyly
  • Ehlers-Danlos syndrome (EDS)
  • Loeys-Dietz syndrome (LDS)
  • Marfan syndrome and other FBN1-related conditions
  • Thoracic aortic aneurysms and aortic dissections (TAAD)

To view the complete clinical description of this panel, click here.

The majority of aortopathy conditions are inherited in an autosomal dominant pattern. BGN-related, FLNA-related, and MED12-related disorders are X-linked. Homocystinuria due to CBS deficiency, ADAMTS10-related, EFEMP2-related aortopathy, and SLC2A10-related arterial tortuosity syndrome are inherited in an autosomal recessive manner.

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACTA2 NM_001613.2
ADAMTS10 NM_030957.3
ARIH1 NM_005744.3
BGN NM_001711.5
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
FOXE3 NM_012186.2
HCN4 NM_005477.2
LOX NM_002317.6
LTBP3 NM_001130144.2
MAT2A NM_005911.5
MED12 NM_005120.2
MFAP5 NM_003480.3
MYH11 NM_001040113.1
MYLK NM_053025.3
NOTCH1 NM_017617.3
PLOD1 NM_000302.3
PLOD3 NM_001084.4
PRKG1 NM_006258.3
SKI NM_003036.3
SLC2A10 NM_030777.3
SMAD2 NM_005901.5
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

COL3A1: Deletion/duplication analysis is not offered for exons 23-24.