A sophisticated test that allows to perform a multiple genetic analysis to evaluate the presence of mutations associated with sudden cardiac death and with inherited cardiomyopathies.

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What is a Sudden Cardiac Arrest (SCA)?

A Sudden cardiac arrest (SCA) is showed by a rapid pulse absence and an unconsciousness state caused by the inability of the heart to pump blood into the brain, and into the body, in an effective way. Usually sudden cardiac arrest is caused by potentially lethal arrhythmias and by some cardiac electric system abnormalities. It’s defined “sudden” because of its nature, so it can affect any person in any place without any notice, even people (individuals) who have never been previously diagnosed cardiac disease or critic clinical conditions. If sudden cardiac arrest is not treated immediately, in a few seconds, the person affected loses consciousness and for every minute passed without receiving any intervention, the percentage of surviving is reduced to 10 per cent. To save a patient’s life affected with sudden cardiac arrest is necessary to proceed with a cardiopulmonary resuscitation (CPR) and with a defibrillation, which restore the cardiac rhythm before the brain is affected by the irreversible damage caused by the lack of blood and oxygen; these events occur between 4 and 6 minutes.

 

What are cardiomyopathies?

Cardiomyopathies are a group of heart muscle diseases, often genetically determined with different modality of transmission, which can show symptoms that limit the functional capacity of the heart, and that involve complications such as atrial fibrillation, heart failure, stroke and, rarely, malignant ventricular arrhythmias and sudden death. Patients with different types of cardiomyopathy (hypertrophic, dilated, arrhythmogenic right ventricular cardiomyopathy, restrictive) are estimated to be about 3 per thousand of general population, but unfortunately the cardiologist notice them only when critic or deadly events occur.

 

Do sudden cardiac arrest and cardiomyopathies have inherited components?

In developed countries, sudden cardiac death is responsible of more than 5% of total deaths and of more of 50% of mortality for cardiovascular diseases. In Italy, it can be estimated, with a good approximation, that the incidence of this phenomenon is about 0.7/1000 inhabitants/ year. Sudden death happens in 20-25% of cases in apparently healthy individuals, as a first manifestation of an unacknowledged underlying pathology. The 5-10% of sudden death cases occur in absence of evident structural cardiac anomalies in structurally normal hearts (sine materia sudden death), in presence of electrophysiological disorders which determine an electric instability responsible of the onset of ventricular arrhythmias, same as the case of long QT syndrome (LQTS), the Brugada syndrome (BS), catecholaminergic polymorphic ventricular tachycardia (CPVT).

About CardioScreen®

CardioScreen® is a genetic test, developed by  GENOMA Group, available in two editions:
The first, “Cardioscreen ® – Cardiomyopathies”, is useful to evaluate the presence of mutations associated with inherited cardiomyopathies and allows us to identify patients at genetic risk of potentially mortal cardiac events through the analysis of their DNA; the second, “Cardioscreen ® – Prevention of sudden cardiac arrest”, is dedicated to the evaluation of the presence of mutations associated with sudden cardiac death sine materia.

CardioScreen®Cardiomyopathies is a diagnostic test that allows us to perform a multiple genetic analysis to evaluate the presence of mutations associated with inherited cardiomyopathies. Therefore, the test, allows us to identify patient at genetic risk of potentially mortal cardiac events through the analysis of their DNA.

CardioScreen®Prevention of sudden cardiac arrest is a diagnostic test that allows us to perform a multiple genetic analysis to evaluate the presence of mutations associated with sudden cardiac death sine materia. Therefore, the test, allows us to identify patients at genetic risk of potentially mortal cardiac events through the analysis of their DNA.

Both tests are recommended for those who know about a case of sudden cardiac death in their family (included sudden infant death), heart failure or transplant, which suggest inherited cardiac pathological substratum. It is useful to inspect also the relatives of accidental death victims caused by sudden illness, for example during the driving of a vehicle, to evaluate whether the event is attributable to a syncopal episode or to a sudden cardiac death.

The analysis of the family tree crossed with genetic screening, can provide information about the modality of transmission of inherited heart disease and its level of penetrance in any family members. Genetic screening of mutations associated to inherited cardiomyopathies is useful to arrange prevention strategies so that unexpected serious events do not occur and do not affect members of the same family.

Furthermore is particularly useful as a prevention instrument in case of:
• Professional or amateur agonistic activity, also for individuals with no familiarity
• Young individuals (younger than 40 years) with idiopathic cardiac symptomatology
• Children and teenagers with a suspect clinical picture for QT anomalies or cardiac rhythm

The geneticist, as mutually agreed upon with the cardiologist, upon informed consent of the affected, will suggest whether to proceed or not with the genetic screening.


Download CardioScreen® Test brochure!

The Testing Process

CardioScreen® test is performed through the taking of a haematic sample. By means of a complex laboratory analysis, the DNA is isolated from nucleated cells and amplified by Polymerase Chain Reaction (PCR) technique. Later, thanks to an innovative technological process of massive parallel sequencing (MPS), which employs Next Generation Sequencing (NGS) techniques using ILLUMINA sequencers, they completely sequence at an elevated in – depth reading:


46 genes (exons and adjacent intragenic regions, ± 5 nucleotides) connected to inherited cardiomyopathies (see Table) for  CardioScreen®- Cardiomyopathies

157 genes (exons and adjacent intragenic regions, ± 5 nucleotides) connected to inherited cardiac pathologies correlated to sudden cardiac arrest (see Table) for CardioScreen® Prevention of sudden cardiac arrest.

Genetic sequences obtained are analysed through an advanced bioinformatics analysis to determine the presence of potential mutations on genes taken under exam.



Technical Report
CardioScreen© - Cardiomyopathies


Technical Report
CardioScreen© - Prevention of sudden cardiac arrest

Accuracy of CardioScreen Test

Current DNA sequencing techniques produce precise results and the accuracy is estimated to be superior to 99%. Although this test is very accurate, it’s necessary to take in consideration the exam limits shown below.



Test Limits

CardioScreen®-Cardiomyopathies evaluates only the genes reported in the Table.
CardioScreen®-Prevention of sudden cardiac arrest evaluates only the genes reported in the Table.

These tests do not highlight:
mutations localised in intragenic regions over ± 5 nucleotides from breakpoints;
deletions, inversions or duplications superior than 20bp;
germinal line mosaicisms (that are mutations present only in gametes).

A “NEGATIVE” result – Absence of mutations for investigated genes don’t exclude the possibility of being carrier of a mutation localised in a genome region that wasn’t investigated during the exam. In some cases, the genomic analysis result can reveal a DNA variation or mutation with a clinical meaning uncertain or determinable, on the basis of the current scientific-medical knowledge. The interpretation of genetic variation is based on the most recent available knowledge at the time the analysis is done. This interpretation could change in the future with the acquisition of new scientific and medical information on genome structure and could influence on the same evaluation of variations.



Test Benefits

The possibility to identify an at-risk individual for inherited cardiomyopathies or for sudden cardiac arrest, represents today the best method to express an early diagnosis of a potential pathology, and, therefore, to reduce related mortality and morbidity. Members of inherited high-risk families, and in particular who is affected by an idiopathic cardiac symptomatology, can ask for a genetic consultation and discuss the own genetic-clinical situation with the geneticist. This evaluation will be able to promote the genetic test to verify if the patient is carrier of a mutation associated to an inherited cardiomyopathy and sudden cardiac arrest. If the test is positive, the examination will be extended to patient’s relatives to identify at-risk individuals of the nuclear family. The information obtained from the genetic test can generate remarkable benefits, such us:

1. The identification of family members at high risk of inherited cardiomyopathy or for sudden cardiac arrest;

2. The organisation of an adequate medical examination program reserved for high risk individuals so to facilitate the adoption of the most effective preventive measures (for example implantable defibrillators or antiarrhythmic pharmacologic therapies);

3. the knowing of the possibility of transmission of genetic mutation to the progeny and the identification of individuals children with germinal genic mutations at high risk.


Test Results


“POSITIVE“

Presence of one or more mutations:
It indicates the test has revealed one or more mutations of one (or more) gene related to sudden cardiac arrest. Our geneticist, during genetic counselling, will explain in a detailed way the meaning of the test result.

Mutations observed through CardioScreen® test can be included in the following prognostic categories:
• known pathological meaning;
• benign meaning since they can be found in normal individuals and they are pathologically meaningless;
• pathological uncertain meaning, since they aren’t known or characterized from the scientific-medical community. In this case, further investigation can be necessary to clarify the variation meaning.


“NEGATIVE”
Absence of mutations:
It indicates the test didn’t detect the presence of mutations in the analysed genes. However is important to underline that a negative result doesn’t mean the patient has zero risk to meet with a potentially critic cardiac event or to develop a cardiomyopathy in the own lifetime; the risk for this people is the same as for the general population, this because not all forms of cardiomyopathy and sudden cardiac arrest have to be connected to genetic causes.


Sample Report
CardioScreen© - Cardiomyopathies


Sample Report
CardioScreen© - Prevention of sudden cardiac arrest

Usefull Forms

CardioScreen®-Cardiomyopathies

CardioScreen® - Prevention sudden cardiac arrest

CardioScreen® is a test of

Genoma Group

Advanced molecular diagnostics solutions using state-of-the art technologies

Test performed in Italy

ISO 17025 accredited laboratories

Fast TAT: 10 days

Personalized genetic counseling

20 years experience in prenatal diagnostics

Dedicated R&D team

Test available worldwide

Over 200.00 genetic tests/year

About us

GENOMA: a great patrimony of technologies and human resources, a model of quality, professionality and competences.

GENOMA is a highly specialized diagnostic centre of national relevance, recognised for its contribution to the molecular diagnostic progress. Research projects and collaborations with scientific networks confer it an international esteem. Founded in 1997,

GENOMA works as reference point for high technology exams, executing mainly “service” activities of genetic, cytogenetics and molecular analysis of elevated specializations, both in prenatal and postnatal field.

GENOMA is considered one of the most innovative European centres of molecular diagnostic, and has two main headquarters in Rome and Milan. Laboratories are situated in a modern and high tech structure, and they develop on a total surface of over 4000 square meters and they are characterized by instrumental equipment and high technologies, as well as elevated qualitative standards.


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Our figures

3 Laboratories (2 in Rome and 1 in Milan)

7.000 sqm dedicated to laboratories

5.000
customers

3.000 different genetic tests

3.000
NGS panels

6.000
genes tested

150
employees

40 sales
representatives

20 areas of application in molecular genetics

How to order CardioScreen Test

CardioScreen Procedure


Ordering CardioScreen® test is simple and fast

Please contact a member of our Customers Service team at +39068811270 for more information
or fill in all required information into the following form.

Eurofins Genoma

Numero Verde 800-501651

info@laboratoriogenoma.eu

Via Castel Giubileo, 11 - 00138 Rome (RM)
Tel. : + (39) 06.8811270 (6 lines)
Fax : +(39) 06 64492025

www.laboratoriogenoma.eu

Via Enrico Cialdini, 16 (Affori Centre)
20161 Milan (MI)
Tel. : + (39) 0239297626 (12 lines PBX)
Fax : + (39) 02392976261

www.genomamilano.it

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