Cardio Genetics

Comprehensive testing for cardiovascular diseases

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What is Cardio Genetics Testing?

Cardiovascular diseases (CVDs) remain one of the leading causes of morbidity and mortality worldwide, with genetics being a major risk factor. CVDs can arise from monogenic inherited patterns (autosomal dominant, recessive, or X-linked) or polygenic inheritance, where common genetic variants predispose individuals. Genetic testing enables precision medicine by tailoring prevention and treatment based on this genetic risk alongside other factors like lifestyle and clinical data.

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Common Inherited Monogenic Heart Diseases

Conditions	Details	Examples
Cardiomyopathies	These are disease of the heart muscle characterized by the muscle becoming enlarged, abnormally thick or rigid. This may result in shortness of breath, arrhythmias or sudden death.	Hypertrophic cardiomyopathy (HCM), Arrhythmogenic Right Ventricular Dysplasia (ARVD), Dilated cardiomyopathy (DCM), Left ventricular non-compaction (LVNC), Restrictive cardiomyopathy (RCM).
Inherited Arrhythmia	It develops as a result of mutations in genes encoding ion channel proteins, involved in cardiac conduction, impairing channel function. Significant variants may contribute to increased risk of ventricular arrhythmia and sudden death.	Brugada syndrome (BS), Timothy syndrome (TS), Lev-Lenègre syndrome, Long QT syndrome (LQTS), Short QT syndrome (SQTS), Atrial fibrillation (AF), Catecholaminergic polymorphic ventricular tachycardia (CPVT), Progressive Cardiac Conduction Disease (CCD).
Hypercholesterolemia and Dyslipidemia	Can be caused by genetic variants in lipid metabolism genes resulting in high levels of LDL cholesterol. Its deposition in the arteries leads to atherosclerosis and increased risk for coronary heart disease. Abnormal lipid levels LDL/HDL cholesterol and/or triglycerides (lipidemias) increase the risk for cardiovascular events.	Familial hypercholesterolaemia (FH), Dysbetalipoproteinaemia, Lysosomal acid lipase deficiency, Familial Chylomicronemia Syndrome, Sitosterolaemia.
Arthropathy and Congenital Heart Disease	Aneurysms involving the aortic root and/or ascending aorta without concomitant aortic valve disease. Usually progressive and the individual may be asymptomatic, diagnosed during imaging studies.	Familial thoracic aortic aneurysms and dissections, Loey-Deitz, Marfan syndrome, Ehlers Danlos.
Other Inherited Cardio Vascular Diseases with Genetic Basis	These include Syndromic and non-syndromic congenital structural and functional heart defects, Cardiomyopathies in Duchenne/Becker muscular dystrophy, Congenital muscular dystrophies and hereditary hemochromatosis, all caused by genetic variants affecting heart or vessel structure and function.	RASopathy syndromes, , Pulmonary arterial hypertension (PAH), Pulmonary veno-occlusive disease (PVOD), Hereditary hemorrhagic telangiectasia (HHT), Ischiocoxopodopatellar syndrome (ICPPS), Hereditary Hemochromatosis.

Indication for Testing

Cardiac arrest or sudden deaths in the family of unknown aetiology.
Enlarged heart or aorta or aortic aneurysm in the chest at less than 55 years of age.
Heart attack/stroke at less than 55 years of age.
Unexplained Irregular heartbeat (arrhythmia).
Very high cholesterol level.
Pulmonary hypertension.
Family history with symptoms of heart ailments.

Specifications

Next Generation Sequencing: Using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an Illumina platform.
Multiplex Ligation-Dependent Probe Amplification: This method allows for the amplification of multiple targets with only a single primer pair.
Fragment analysis PCR for repeat expansion analysis: These rely on detection of changes in the length of a specific DNA sequence to indicate the presence of repeat expansions.
Sample Type: DIRECT DNA, Peripheral Blood in EDTA.

Comprehensive Cardiac Genetic Tests Offered by MedGenome

Cardiac channelopathy gene panel

Methodology : Next GenerationSequencing
TAT : 19 working days
Test Code : MGM001

Cardiomyopathy gene panel

Methodology : Next Generation Sequencing
TAT : 19 working days
Test Code : MGM002

Hypercholesterolemia gene panel

Methodology : Next Generation Sequencing
TAT : 19 working days
Test Code : MGM085

Ehler Danlos syndrome gene panel

Methodology : Next Generation Sequencing
TAT : 19 working days
Test Code : MGM013

Marfan syndrome (FBN1) gene analysis

Methodology : Next Generation Sequencing
TAT : 19 working days
Test Code : MGM015

Noonan syndrome gene panel

Methodology : Next Generation Sequencing
TAT : 19 working days
Test Code : MGM266

DiGeorge syndrome deletion/ duplication analysis

Methodology : MLPA
TAT : 14 working days
Test Code : MGM516

Alagille syndrome 1 (JAG1) deletion/duplication analysis

Methodology : MLPA
TAT : 14 working days
Test Code : MGM552

FISH for Di George / VCF syndrome

Methodology : Fluorescence in situ hybridization (FISH)
TAT : 9 working days
Test Code : MGM1104

FISH for Williams syndrome

Methodology : Fluorescence in situ hybridization (FISH)
TAT : 9 working days
Test Code : MGM1063

Clopidogrel dosage CYP2C192 & CYP2C193

Methodology : Sanger Sequencing
TAT : 5 working days
Test Code : MGM005

CYP2C19 Clopidogrel resistance (All CPIC alleles)

Methodology : Next Generation Sequencing (NGS)
TAT : 12 working days
Test Code : MGM2520

Marfan Syndrome (FBN1) deletion duplication Analysis

Methodology : MLPA
TAT : 14 working days
Test Code : MGM014

Warfarin response genotyping (VKORC1, CYP2C9, CYP4F2)

Methodology : Next Generation Sequencing (NGS)
TAT : 12 working days
Test Code : MGM1034

Key Highlights of MedGenome Labs Cardiogenetics

High Sensitivity and Specificity

Ensures reliable and clinically actionable results of genetic testing for heart diseases.

Comprehensive Genetic Analysis

Covers a wide range of genes associated with heart conditions through a comprehensive gene panel.

Advanced Methodologies

This genetic testing for cardiac disease utilises NGC, MLPA, RT-PCR, FISH, and Microarray to perform precise genetic testing for heart problems.

Largest CAP-accredited Lab

MedGenome is South Asia's largest CAP-accredited and NABL-certified genomics sequencing lab, ensuring the highest quality and accuracy standards.

Extensive Laboratory Network

Operates 20+ core, satellite, and partner labs across India, including Trident, PRL, and GenX Diagnostics; along with a 30,000 sq. ft state-of-the-art facility in Bengaluru.

What is Cardio Genetics Testing?

Heart health is a crucial aspect of overall well-being, and many heart conditions have a genetic link. These disorders can affect individuals at any age, sometimes without warning, and may even be life-threatening. Understanding your genetic risk through genetic testing for cardiovascular disease can play a significant role in early diagnosis, targeted treatment, and effective management of these conditions. Genetic testing for cardiac disease refers to specialised genetic testing that identifies inherited heart conditions. It focuses on analysing genes associated with various cardiac disorders to determine if an individual has a genetic predisposition to specific heart diseases. Genetic testing for cardiovascular diseases helps diagnose conditions like congenital heart disease (CHD), cardiac channelopathies, and cardiomyopathies, among others. MedGenome’s Cardiogenetic tests are a powerful tool for early detection, allowing healthcare providers to tailor treatment and management strategies to reduce the risk of severe heart-related complications.

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What is the Prevalence of Genetic Heart Diseases?

In India, approximately 10.5% of the population, or around 32 million people, suffer from cardiovascular diseases. The incidence has grown significantly in urban areas, rising from 2% to 10.5% over the years. Among patients, non-diabetics have an 11% risk, while diabetics face a 21.4% chance of developing heart disease.

Conditions like Congenital Heart Disease (CHD) affect 2 to 6 per 1,000 live births, while Familial Hypercholesterolemia (FH) impacts 1 in 500 people globally. These statistics underline the importance of understanding genetic factors in heart health through cardiovascular genetic testing.

What Are Some Common Genetic Cardiac Diseases?

Why is Genetic Testing Important for Cardiac Diseases?

When Should You Get Tested for Genetic Heart Conditions?

Recognising when to undergo genetic testing for heart disease is crucial for early intervention. You should consider getting tested for genetic heart diseases if you have:

Heart defects present since birth
Enlarged heart or heart failure before 60 years of age
Irregular heartbeat or early coronary artery disease
An aortic aneurysm diagnosed before 55 years of age
Sudden Infant Death Syndrome (SIDS) in the family
High cholesterol levels or early heart attacks
A family history of heart diseases like Familial Hypercholesterolemia, unexplained cardiac arrests, or sudden deaths
A high-risk lifestyle (e.g., smokers, individuals with hypertension, diabetes, or stressful lives)
Anyone above 35 years of age with comorbidities such as high cholesterol or diabetes.

What Are the Test Methodologies for Cardiac Genetic Testing?

Why Choose MedGenome for Inherited Cardiac Diseases Testing?

MedGenome is a trusted partner for genetic testing for cardiac disease. Here’s what sets us apart:

Comprehensive Test Panels: We offer a wide range of pre-designed genetic testing for cardiovascular diseases supported by the latest scientific research.
Advanced Technology: Using cutting-edge platforms like NGS and MLPA, we ensure precise and accurate results.
Expert Support: Our team includes experienced genetic counsellors who provide detailed result interpretations and counselling for patients and families.
Patient-Centric Services: We prioritise your comfort with clear communication, excellent customer service, and fast turnaround times (28 days for NGS and 15 days for MLPA).

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