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.
Cardiogenetics
What is Cardiogenetics Testing?
Cardiovascular Genetic Testing involves the analysis of genetic factors contributing to cardiac disorders, which can be inherited and manifest at any age. This genetic test for cardiac diseases identifies pathogenic variants in genes that may cause different or similar cardiac conditions, exhibiting clinical and genetic heterogeneity. The tests are essential for diagnosing conditions like cardiomyopathies, channelopathies, hypercholesterolemia, and other genetic heart disorders.
Comprehensive Cardiac Genetic Tests Offered by MedGenome
| Test Code | Test Name | Conditions Detected | Methodology |
|---|---|---|---|
| MGM001 | Cardiac Channelopathy Gene Panel | Brugada syndrome, Lev-Lenègre syndrome, Atrial fibrillation, CPVT, Timothy syndrome, Long QT syndrome, Short QT syndrome, Progressive Cardiac Conduction Disease | NGS |
| MGM002 | Cardiomyopathy Gene Panel | Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Restrictive cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia, Left ventricular non-compaction | NGS |
| MGM013 | Ehlers Danlos Syndrome Gene Panel | Ehlers Danlos syndrome | NGS |
| MGM015 | Marfan Syndrome (FBN1) Gene Analysis | Marfan syndrome | NGS |
| MGM014 | Marfan Syndrome (FBN1) Deletion/Duplication Analysis | Marfan syndrome | MLPA |
| MGM1291 | Familial Hypercholesterolemia Gene Panel | Familial hypercholesterolemia (FH), Lysosomal acid lipase deficiency, Sitosterolaemia, Dysbetalipoproteinaemia, Familial Chylomicronemia Syndrome | NGS |
| MGM085 | Hypercholesterolemia Gene Panel | Hypercholesterolemia, Dyslipidemias | NGS |
| MGM272 | Clinical Exome Sequencing | Comprehensive genetic analysis | NGS |
| MGM266 | Noonan Syndrome Gene Panel | Noonan syndrome | NGS |
| MGM137 | Duchenne Muscular Dystrophy Gene Panel | Duchenne muscular dystrophy | NGS |
| MGM083 | Hemochromatosis Gene Panel | Hereditary hemochromatosis | NGS |
| MGM400 | Rasopathy Gene Panel | RASopathies | NGS |
| MGM552 | Alagille Syndrome 1 (JAG1) Deletion/Duplication Analysis | Alagille syndrome | MLPA |
| MGM140 | Limb-girdle Muscular Dystrophy Deletion/Duplication Analysis | Limb-girdle muscular dystrophy | MLPA |
| MGM136 | Duchenne Muscular Dystrophy Deletion/Duplication Analysis | Duchenne muscular dystrophy | MLPA |
| MGM005 | Clopidogrel Dosage CYP2C19*2 & CYP2C19*3 | Pharmacogenomic assessment for clopidogrel response | RT-PCR |
| MGM1033 | Statin-Induced Myopathy Predisposition SLCO1B1 | Risk of statin-induced myopathy | RT-PCR |
| MGM1034 | Warfarin Dosage - VKORC1, CYP2C9 Variants | Pharmacogenomic assessment for warfarin dosage | RT-PCR |
| MGM1032 | Cardiomyopathy Predisposition - MYBPC3 (25bp deletion) | Predisposition to cardiomyopathy | PCR |
| MGM514/MGM294 | Aneuploidies | Chromosomal aneuploidies | Microarray |
| MGM1104 | DiGeorge/VCF Syndrome | 22q11.2 deletion syndrome | FISH |
| MGM1063 | FISH for Williams Syndrome | Williams-Beuren syndrome | FISH |
| MGM516 | DiGeorge Syndrome Deletion/Duplication Analysis | 22q11.2 deletion syndrome | MLPA |
Who Should Be Offered the Cardiogenetics Panel?
The Cardiogenetics Panel should be offered to individuals and families where a hereditary cardiovascular condition is suspected. This includes:
- Families with multiple members affected by cardiovascular disease, to help identify an underlying genetic cause.
- Individuals with confirmed or suspected syndromic and non-syndromic cardiac conditions, for diagnostic confirmation.
- Relatives of patients with known genetic mutations, for cascade testing and risk assessment.
- Patients with congenital heart defects where a genetic basis is suspected.
- Individuals from families with a history of cardiac arrest or sudden unexplained death.
- People under 55 years old presenting with:
- An enlarged heart, aortic dilation, or aortic aneurysm
- Heart attack or stroke
- Unexplained arrhythmias
- Extremely high cholesterol or suspected familial hypercholesterolaemia
- Pulmonary hypertension of unknown cause
Specifications
- Sample Type Blood (3- 5ml in EDTA tubes)
- Methodologies Next-Generation Sequencing (NGS)
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- FISH
- PCR
- RT-PCR
- Turnaround Time (TAT) NGS: 28 days
- MLPA: 15 days
- FISH: 9 days
- PCR/RT-PCR: 7 days
Key Highlights of MedGenome's Cardiogenetics Panel
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 NGSC, MLPA, RT-PCR, FISH, and Microarray to perform precise genetic testing for heart problems.
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