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Hereditary Cardiac Diseases Congenital Heart Disease Panel

Genesys Diagnostics
SKU: GDI13

$750.00 per test

Helps individuals who want to detect risk of congenital heart disease due to genetics and family risk by using the latest next generation sequencing unlike any other Clinical Diagnostics marketplace Meenta offers unfettered access to validated tests.

 

Helps individuals who want to detect risk of congenital heart disease due to genetics and family risk by using the latest next generation sequencing unlike any other Clinical Diagnostics marketplace Meenta offers unfettered access to validated tests.

 

The Fine Print

Purpose: Detect risk of congenital heart disease due to genetics and family risk.

Benefits:

  • Reveals genetic cardiovascular risk in yourself and close relatives
  • Comprehensive genetic test for high cholesterol
  • Outlines hereditary mutations that can reveal increased risk to future generations
  • Analyzes 24 cardiac genes 
  • Helps inform helpful healthcare and lifestyle changes

Sample type: Cheek swab

Technology: Next Generation Sequencing

Turnaround time: 3-4 weeks from receipt in lab

Congenital heart disease can present at birth or develop over time with wear on the heart valves and vessels and effects. Approximately 1.35 million infants are born worldwide with Congenital Heart Disease (CHD) each year. CHD is also indicated in stillbirths and early fetal demise.. Congenital heart defect affect the way the heart works. If a relative has CHD the infant has a 3 fold increase risk of CHD.  Some hereditary heart defects  are such that with each pregnancy, if one of the parents has a defect the infant has a 50% chance of having a child with the same heart defect.(1)

This panel may be appropriate for anyone with a personal or family history of CHD.  The Genesys Congenital Heart Disease Panel includes genes associated with non-syndromic and syndromic CHD, including Noonan syndrome. 

Arrhythmias, congenital heart disease, cardiomyopathy, and high blood cholesterol, Hypertrophic Cardiomyopathy (HCM), idiopathic or familial Dilated Cardiomyopathy (DCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC) and restrictive cardiomyopathy can all be inherited.   Coronary artery disease can run in families, indicating inherited genetic risk, and progress to leading to heart attack, stroke, and heart failure. It is also becoming more well known that Covid-19 has often led to Long Term Covid and the heart is seen as one of the bigger issues, especially with underlying disease that may not yet be symptomatic.

(1) Stanford Children’s Health. (2022). Factors That May Lead to a Congenital Heart Defect (CHD). Available at: https://www.stanfordchildrens.org/en/topic/default?id=factors-contributing-to-congenital-heart-disease-90-P01788
This test evaluates the following genes:

ACTC1, ALMS1, BRAF, CBL, CRELD1, ELN, HRAS, JAG1, KRAS, MAPK2K1, MAPK2K2, MYH6, NKX2-5, NODAL, NOTCH1, NRAS, PTPN11, RAF1, SALL4, SCN5A, SHOC2, SOS1, TBX5, ZIC3

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.

 
Cheek swab in viral transport media shipped at room temperature

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