Genetic Testing for Heart Disease

Using Next Generation Sequencing (NGS) technology

You Should Know


CVD is the leading cause of morbidity and mortality worldwide


In the U.S. more than 600,000 ( 1 in 4) die of heart disease each year.


Of those with heart disease, coronary heart disease is the most common, killing > 370,000 people annually.


Abnormalities in lipoprotein metabolism represent approximately 50% of the population attributable risk of CVD

Inherited cardiac diseases consist of a extensive and diverse range of diseases of the heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal hearts, that is, channelopathies. There is estimated prevalence of 3% in the general population, these conditions suggest a significant epidemiological entity global and are a major cause of cardiac morbidity and mortality in the young.

Next-generation sequencing (NGS) is a high-throughput procedure that allows rapid sequencing of the base pairs in DNA or RNA samples. Allowing  a extensive range of applications, including gene expression sequencing ,human microbiome research,  detection of epigenetic changes, immune system and inflammation research ,  molecular analysis as Hereditary Cancer Screening and Hereditary Cardiac Diseases Screening among others, , NGS is encouraging innovation and empowering the potential of personalized medicine.

Benefits of Cardiac Genetic Testing for Inherited Cardiovascular Diseases



The knowledge of a hereditary cardiomyopathy condition can help from better scrutiny and instructive phases to better-quality manage their risks as well as determine the best treatment through genetic testing for medication effectiveness.



Therapeutic prospects involve guide clinical treatment, lifestyle changes, implantable devices, medical procedures and even surgery.


The return of any results from genetic testing for heart disease to a patient should be complemented by post-testing genetic counseling, so that the patient has a complete understanding of the associations of the results for their health and, possibly, the health of family members because any biological relative might share the same variant and either have the disease or be at risk for developing the condition in the future.

With the achievement of the Human Genome Project and the improvement of gene detection technology, the precision medicine has progressively been applied to clinical practice.

The Next Generation Sequencing (NGS) Panel for Inherited Cardiac Diseases analyzes 36 genes associated with


Hereditary  arrhythmogenic right ventricular cardiomyopathy (ARVC),
Dilated cardiomyopathy (DCM)
Hypertrophic Cardiomyopathy ( HCM)
Left Ventricular Non-Compaction Cardiomyopathy (LVNC)
Malignant Hyperthemia, (MH)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Sudden Infant Death Syndrome
Long QT syndrome (LQTS) and Brugada syndrome
Short QT syndrome (SQTS)
Familial Hypercholesterolemia

Genetic Testing for Familial Hypercholesterolemia (FH) 

Genes Analyzed : APOB,  LDLR , PCSK9

Familial hypercholesterolemia is a genetic disorder described by high cholesterol levels, precisely very high levels of low-density lipoprotein, in the blood and early cardiovascular disease.

Familial hypercholesterolemia (FH) can be caused by inherited changes (mutations) in the LDLRAPOB, and PCSK9 genes, which affect how your body regulates and removes cholesterol from your blood. About 60-80% of people with FH have a mutation found in one of these three genes. Some mutations that cause FH remain unknown. (CDC)

What genetic variants are associated with FH?

At present-day,  most people with heterozygous FH have variants in one of three genes: LDLR gene, APOB gene, and PCSK9 gene.

Benefits of Genetic Testing for Familial Hypercholesterolemia (FH) 


Pre-treatment LDL-C is unidentified


The LDL-C level is not as high as 190 mg/dL, but family history suggests FH

LDLR gene (low-density lipoprotein receptor) 60% – 80%
APOB gene (apolipoprotein B or ApoB) 1% – 5%
PCSK9 gene (proprotein convertase subtilisin/kexin Type 9) 0% – 3%