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Hereditary Cardiac Diseases Aortopathy Comprehensive Panel

Genesys Diagnostics
SKU: GDI11

$750.00 per test

Helps individuals who want to know their risk of inherited aortic conditions by using the latest genetic techniques because unlike any other Clinical Diagnostics marketplace Meenta offers unfettered access to validated tests.  

Helps individuals who want to know their risk of inherited aortic conditions by using the latest genetic techniques because unlike any other Clinical Diagnostics marketplace Meenta offers unfettered access to validated tests.  

The Fine Print

Purpose: Detect risk of hereditary aortopathy heart disease

Also known as:  Thoracic aortic aneurysm, Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome type 4, EDS type 4

Benefits:

Reveals genetic risk in yourself and close relatives

Comprehensive genetic test for cardiac diseases aortopathy

Outlines hereditary mutations that can reveal increased risk to future generations

Analyzes cardiac genes 

Informs healthcare decisions and lifestyle changes

Sample type: Cheek swab

Technology: Next Generation Sequencing

Turnaround time: 3-4 weeks from receipt in lab

Aortopathies are a disorder of the aorta, the largest artery in the body.  The aorta splits into two other aortas called the ascending and descending aortas. Aortopathies are a group of disorders characterized by bulges and tears  of one of the aortas that ultimately can lead to catastrophic rupture of the blood vessels.

For example, Thoracic aorta aneurysm and dissection (TAAD) is an aortopathy.  TAAD causes the a weakness in the aorta that eventually causes bulges and tears.  Family members who are concerned they may have a risk of aortopathy should consider testing since twenty percent of the time TAAD affects two or more closely related family members1.

This test is for patients who have isolated or syndromic aortic disease presenting with ascending aortic dilatation, aneurysm or dissection. 

1Bhatia, A., Tenney, T., & Bryksin, J. (2021). Cardiac disorders. In Biochemical and Molecular Basis of Pediatric Disease (pp. 131-166). Academic Press.

 

 

This test includes:

ACTA2, ABCG5, ABCG8, APOC2, APOE, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, HCN4, MYH11, MYLK, NOTCH1, SLC2A10, SMAD3, SMAD4, TBX20, TGFB2, TGFB3, TGFBR1, TGFBR2

How do I interpret the results?

Genetic counseling is generally recommended for any individual taking this test and their family. A medical provider can request reanalysis of the variants, and this is recommended on an annual basis. Data from this next-generation sequencing analysis can be reassessed for the presence of any new variants that may be newly linked to established genes or to newly characterized genes and/or disorders identified since the data used in this report was generated. A charge may be applied for reanalysis. Please contact support@meenta.io for more information at the time reanalysis is requested.

Can I view a sample report?

Yes, a sample report is available here.

 

 

Cheek swab in viral transport media shipped at room temperature

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