Cardio Genetics

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Cardio Genetics


Precision in diagnosis, including the identification of disease subtypes, directly influences treatment and patient outcomes. Understanding of pathology at a molecular level is critical for identification of many diseases and their subtypes.

Presenting ACTIA from MedGenome, delivering ACTIONABLE insights to enable happier outcomes. Actia provides an end-to-end integrated solution to clinical genomics in India and is highly focussed on the Indian population.

ACTIA Diagram

Inherited Cardiac Conditions

Sometimes the first symptom of an inherited cardiac condition is sudden cardiac death. Genetic heart conditions also known as inherited cardiac conditions are passed on through families. These conditions can affect people of any age, and can be life-threatening. If left undetected and untreated an inherited heart condition can lead to heart failure or even sudden death from cardiac arrest.

The most common inherited cardiac conditions are:


Common Inherited Heart Conditions

Congenital Heart Disease
Cardiac Channelopathies
Familial Hyper-cholestrolaemia

Congenital Heart Disease (CHD)

  • Most common congenital anomaly
  • An important cause of infant morbidity and mortality
  • Has an estimated prevalence of 2-6 per 1000 live births
  • Syndromic CHD can be due to aneuploidies, chromosomal deletions or translocations, or single-gene disorders
  • Non-Syndromic CHD represents a group of heart anomalies that include septal defects, valve defects, and out-flow tract anomalies

Syndromic CHD Resulting from Single Gene Defects are:

Syndrome Causative Genes
Noonan Syndrome PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, RIT1, SOS2, LZTR1
Costello Syndrome HRAS
Alagille Syndrome JAG1, NOTCH2
Holt-Oram Syndrome TBX5
CFC syndrome BRAF, KRAS, MAP2K1, MAP2K2

Non-Syndromic CHD Resulting from Single Gene Defects are

Cardiac Anomalies Genes

AS aortic stenosis, ASD atrial septal defect, AVSD atrioventricular septal defect, BAV bicuspid aortic valve, CHD congenital heart defects, CoA coarctation of the aorta, DORV double outlet right ventricle, HLHS hypoplastic left heart syndrome, PDA patent ductus arteriosus, PS pulmonary stenosis, TAC truncus arteriosus communis, TGA transposition of the great arteries, TOF tetralogy of Fallot

Cardiac Channelopathies

  • Are a very important cause of arrhythmia-related cardiac events including Sudden Unexplained Death
  • Caused by disturbed function of ion channel subunits or the proteins that regulate them
  • Genetic abnormalities in the ion-channels predispose a person to life-threatening arrhythmias
  • Can also be a presenting feature of other genetic disorders such as Jervell and Lange-Nielsen syndrome, Timothy syndrome, Andersen-Tawil syndrome, Naxos disease, Carvajal syndrome and Muscular Dystrophy
  • Genetic testing can be helpful for risk stratification and also to guide genotype specific therapy, particularly for LQTS

Major Cardiac Channelopathies

The major cardiac channelopathies


  • The most common cardiac channelopathy
  • Estimated to occur in about 1 in 2500 persons
  • Charactrized by prolongation of the QT interval on ECGs
  • Currently there are 14 types of LQTS described based on the specific gene involved, location of a mutation along the gene, and associated non-cardiac findings
  • Sub types are associated with different triggering events such as exercise, swimming, or loud sounds such as alarms
  • Majority of LQTS is autosomal dominant


  • A rare inheritable cardiac channelopathy
  • Characterized by abnormally short QT intervals
  • An increased propensity to develop atrial and ventricular tachyarrhythmia in the absence of structural heart disease
  • Most frequent symptom is cardiac arrest (up to 40%), followed by palpitations (30%), syncope (25%) and atrial fibrillation (AF)


  • SCD can be the first manifestation of the disease
  • Accounts for 4-12% of sudden cardiac deaths
  • Clinically characterized by ST segment elevation in leads V1-V3 of an electrocardiogram
  • Individuals with BS develop a monomorphic ventricular tachycardia, often precipitated during sleep or rest, and especially fever


  • A rare cardiac disorder of genetic origin often with familial trade
  • A cardiac conduction disorder that may progress to complete heart block
  • Is associated with ion channel gene mutations
  • Mutations in several structural and regulatory genes such as have been reported conjunction with cardiac conduction abnormalities with or without dilated cardiomyopathy


  • A pathological condition whereby intense physical exercise or acute emotional stress can trigger abnormal heartbeat - ie,. ventricular tachycardia
  • Can lead to dizziness, fainting (syncope), and in worst cases to cardiac arrest and sudden death
  • Individuals with CPVT generally have normal resting EKGs with a struturally normal heart
  • A rare disease with an estimated prevalence of 1:10,000
  • Commonly manifests at a certain age and has poor spontaneous out come

Familial Hypercholesterolaemia

  • A genetic condition where there is an exceptionally high level of cholesterol in the blood
  • Yellow deposits of cholesterol-rich fat may be seen in various places on the body such as around the eyelids, the outer margin of the iris and in the tendons of the hands, elbows, knees and feet
  • Deposition of cholesterol in the walls of arteries leads to atherosclerosis resulting in coronary artery disease and heart attack
  • There is no cure, but it can be treated successfully
  • Affects about 1 in 500 people in most countries

Phenotypes of familal Hypercholestrolemia

Heterozygous FH (HeFH)
  • Resulting from a heterozygous Pathogenic variant
  • Prevalance 1:200 to 1:250
Heterozygous FH (HeFH)
  • Resulting from biallelic pathogenic variants (including true homozygous and compound hetreozygous)
  • Prevalance 1:160,000 to 1:250,000

Cardiovascular Pharmacogenetics

  • Right drug to the right patient in the right dose
  • A significant interpatient variability in drug response has been observed much of which can be attributed to genetics
  • A person’s genotype can influence drug metabolism, drug transport, and sensitivity to a drug
  • Pharmacogenetics involves applying DNA sequence data to predict drug response, and also to drug discovery and development
  • Tremendous advances in our understanding of the genetic factors influencing response to a variety of drugs, including those targeted at treatment of cardiovascular diseases have been made
  • Sufficient guidelines are now available describing the use of genetic information to guide treatment with these therapies
  • Health centers are now using this information in the care of their patients

ACTIA Offers

  • ACTIA Cardiac Channelopathy Panel: Includes sequence analysis of 38 genes which encode myocardial ion channels that regulate cation in influx/eflux, as well as channel-associated regulatory factors and interaction partners.
  • ACTIA Cardiomyopathy Panel: Includes sequence analysis of 116 genes associated with cardiomyopathies often encode proteins of the sarcomere
  • Cardiomyopathy predisposition test: An additional testing option available is the where a 25bp deletion in the MYBPC3 gene is looked into

1.Clopidogrel dosage Test (CYP2C19*2 & CYP2C19*3) Patients with variants in the CYP2C19 gene, including CYP2C19*2 & CYP2C19*3, have reduced production of the metabolite of clopidogrel, leading to reduced inhibition of platelet aggregation and increased incidence of coronary stent thrombosis. By establishing the CYP2C19 genotype, the clinician can now accurately predict if the clopidogrel treatment is likely to be effective in the patient requiring anti- platelet therapy.

2.Warfarin dosage - VKORC1 (c.-1639 G>A), CYP2C9*2,CYP2C9*3 & CYP2C9*13 Genetic variants in the CYP2C9 and VKORC1 result in the individual differences in the ability to metabolise warfarin. Using information regarding an individual’s CYP2C9 and VKORC1 genotype to determine the personalised starting dose, the clinician may reduce the time for a stable warfarin dose, thus avoiding serious bleeding events.

3.Statin induced myopathy predisposition SLCO1B1 p.(Val174Ala)

Statins inhibit HMG Coenzyme A reductase (HMGCR), the rate-limiting enzyme in cholesterol biosynthesis and are highly effective in lowering blood concentrations of LDL-cholesterol. GWAS studies have found a significant association between the rs4149056 (c.521T>C) single-nucleotide polymorphism (SNP) in the SLCO1B1 gene, and myopathy in individuals taking 80 mg simvastatin per day, with an odds ratio of 4.5 per rs4149056 C allele [11].

  • A broad range of pre-designed gene mutation panels which have been developed with in-depth disease understanding of the genetic disorder incorporating the latest research in that particular domain.
  • New updated technologies, helpful customer service, and clear result interpretation along with counselling sessions with our Genetic Counsellors, make us equipped to provide you the best available support for your patients and families with inherited metabolic disorders.

Why Recommend ACTIA for Hereditary Cardiac Disorders?

Inherited Heart Conditions

  • Show Clinical heterogeneity and Genetic heterogeneity
  • Phenotypes can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner
  • Can also be inherited in a mitochondrial manner
  • Few disorders may exhibit reduced penetrance and variable expressivity, even among individuals in the same family
Why Recommend ACTIA for Hereditary Neurological Disorders?

1.Next Generation Sequencing (NGS)

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. The sequence data that is generated is aligned and analyzed for sequence variants.

2.Multiplex ligation-dependent probe amplification (MLPA)

Deletion and duplication analysis of genomic DNA is carried out by MLPA. This method allows for the amplification of multiple targets with only a single primer pair.

Test sample requirements

Test sample requirements
Blood (3-5ml in EDTA tubes)
Extracted DNA samples (1µg high quality DNA)

Required forms

  • Relevant clinical information including all the clinical presentations and symptoms
  • Test request form (TRF)

Turnaround time

  • 4 weeks for NGS
  • 3 weeks for MLPA
  • 3 weeks for Sanger sequencing
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Free Genetic Counselling

Free Genetic Counselling

ACTIA offers all your patients FREE pre & post-test genetic counselling with our expert and certified genetic counsellors.

Best available support for your patients and families via

  • Latest technologies
  • Helpful customer service
  • Clear result interpretation
  • Counselling sessions with our Genetic Counsellors
Dial 1800 103 3691

Our representative will get in touch with you within 24 hours to help you with the registration. You can start prescribing the test right away and help your patients gain clarity about their genetic health.

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