Aortopathies & Connective Tissue Disorders
Arboretum Hereditary Aortopathy Test
The Arboretum Hereditary Aortopathy Test covers genetic conditions that affect the aorta and related connective tissue, including heritable thoracic aortic disease (HTAD), Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. These conditions increase the risk of aortic aneurysm and dissection. Early genetic diagnosis helps guide monitoring schedules and surgical decision-making.
Clinical Indications
Clinical Indications Consider testing for individuals with a personal or family history of thoracic aortic aneurysm or dissection, clinical features of Marfan syndrome or a related connective tissue disorder, aortic root dilation identified on imaging, or a close relative with a confirmed genetic diagnosis of HTAD or a related condition.
Scope / Genes Tested
ACTA2, ARIH1, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, LTBP3, MED12, MFAP5, MYH11, MYLK, NOTCH1, PKD2, PLOD1, PLOD3, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2
Test Details
- Specimen Source: Buccal (cheek) swab
- Sequencing Technology: Whole Exome Sequencing
Analytical Performance
This test detects >99.5% of described mutations in the targeted genes, including single nucleotide variants, small insertions and deletions, and multi-exon copy number changes.
Clinical Utility
A positive result can establish a specific genetic diagnosis, guide the frequency and type of aortic imaging surveillance, inform thresholds for preventive surgical intervention, and identify family members who need monitoring. Gene-specific findings can also influence blood pressure management targets and activity recommendations.
Variant Reclassification & Ongoing Monitoring
Sample Report
Supporting Links and Documents
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