CardioNext® & CardioScreen®
CardioNext® & CardioScreen®
CardioNext® 50 SNP Cardiovascular Disease NGS Screening (54 genes)
(Test results: 30 days, Sample type: EDTA tube and buccal swab)
ACT (-51 G-T), APOA1 (-75 G>A), APOB (R3500Q), APOC3 (T3175G), APOC3 (T3206G), APOE (E2, E3, E4), CETP (G279A), CETP (G1533A), GJA4 (CX37) (Pro319Ser), HMGCR (-911 C-A), LPL (C1595G), MMP3 (1171 5A/6A), NOS3 (-786 T>C), NOS3 (Glu298Asp), NOS3 (VNTR intron 4), PON1 (Gln192Arg), SREBF2 (Gly595Ala), F2/prothrombin (G20210A), F5 (Leiden), F5 (Y1702C), F5 (H1299R), F5 (R306T/Cambridge), F13A1 (V34L), FGB/Beta Fibrinogen (-455G-A), ITGB3/HPA (Leu33Pro), PAI-1 (1 bp Del/Ins 4G/5G), ACE (I/D), AGT (M235T), ADRA2B (Ins>Del Codon 299), ADRB1 (Gly389Arg), ADRB2 (Gly16Arg), ADRB2 (Gln27Glu), ADRB3 (Trp64Arg), NPY (Leu7Pro), CBS (C699T), CBS (T1080C), MTHFR (C677T), MTHFR (A1298C), MTR (A2756G), MTRR (A66G), IL-1B (-511 C-T), IL-6 (G634C), IL-6 (G-174C), IL-10 (-1082 G-A), IFN- (+874 T-A), TNF (-308 G-A), VEGF (-2578 C-A), MnSOD (C -28 T), MnSOD (T175C), SOD3 (C760G)
CardioScreen® Cardiomyopathy Disease NGS Screening (46 genes)
(Test results: 30 days, Sample type: EDTA tube)
ABCC9, ACTC1, ACTN2, ANKRD1, CASQ2, CAV3, CRYAB, CSRP3, CTF1, DES, DSC2, DSG2, DSP, DTNA, EMD, FHL2, GLA, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PKP2, PLN, PRKAG2, RBM20, RYR2, SGCD, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
CardioScreen® Sudden Cardiac Arrest Prevention NGS Screening (166 genes)
(Test results: 30 days, Sample type: EDTA tube)
ABCC9, ABCG5, ABCG8, ACTA1, ACTA2, ACTC1, ACTN2, AKAP9, ALMS1, ANK2, ANKRD1, APOA5, APOB, APOC2, APOE, BAG3, BRAF, CACNA1C, CACNB2, CALM1, CALR3, CASQ2, CAV3, CBL, CBS, CETP, COL3A1, COL5A1, COL5A2, COX15, CRELD1, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, EYA4, FBN1, FBN2, FHL1, FHL2, FKRP, FKTN, FXN, GAA, GATAD1, GCKR, GJA5, GLA, GNAS, GPD1L, GPIHBP1, HADHA, HCN4, HFE, HRAS, HSPB8, JAG1, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LMF1, LMNA, LPL, LTBP2, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOZ2, MYPN, NEXN, NKX2-5, NODAL, NOTCH1, NPPA, NRAS, PCSK9, PKP2, PLN, PRKAG2, PRKAR1A, PTPN11, RAF1, RBM20, RYR1, RYR2, SALL4, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SEPN1, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SLC2A10, SMAD3, SMAD4, SNTA1, SOS1, TAZ, TBX20, TBX3, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL, ZIC3
What is Sudden Cardiac Arrest (SCA)?
Sudden cardiac arrest (SCA) is a condition that occurs due to the heart's inability to effectively pump blood to the brain and body, resulting in rapid pulse loss and unconsciousness. It is generally caused by potentially fatal arrhythmias and abnormalities in the heart's electrical system. The reason it's called "sudden" is because it can affect anyone, anywhere, without warning. This can even happen in individuals who have not been diagnosed with heart disease or critical clinical conditions. If not treated immediately, the person loses consciousness within seconds, and the survival rate decreases by 10% for every minute without intervention. Cardiopulmonary resuscitation (CPR) and defibrillation are needed to save a patient from sudden cardiac arrest, as these procedures help restore the heart rhythm before irreversible damage occurs due to lack of blood and oxygen to the brain within 4-6 minutes.
What are Cardiomyopathies?
Cardiomyopathies are a group of heart muscle diseases, generally genetically determined, that appear in various transmission patterns. These diseases can show symptoms that limit the heart's functional capacity and can lead to complications such as atrial fibrillation, heart failure, stroke, and, rarely, malignant ventricular arrhythmias and sudden death. It is estimated that about 3 in 1,000 people in the general population have different types of cardiomyopathies (hypertrophic, dilated, arrhythmogenic right ventricular cardiomyopathy, restrictive), but unfortunately, cardiologists usually only notice these conditions when critical or fatal events occur.
Are There Inherited Components of Sudden Cardiac Arrest and Cardiomyopathies?
In developed countries, sudden cardiac death accounts for more than 5% of total deaths and more than 50% of cardiovascular-related deaths. In Italy, this phenomenon is estimated to occur at a rate of about 0.7/1000 persons/year. About 20-25% of sudden death cases occur in seemingly healthy individuals as the first sign of an underlying pathology. 5-10% of sudden death cases occur without significant structural heart abnormalities but are characterized by electrical instability in the heart, leading to the onset of ventricular arrhythmias, such as Long QT Syndrome (LQTS), Brugada Syndrome (BS), and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
What is CardioScreen®?
CardioScreen® is a genetic test developed by the GENOMA Group and is available in two versions:
1. CardioScreen® – Cardiomyopathies:
Used to evaluate the presence of mutations associated with inherited cardiomyopathies and identify patients genetically at risk of potentially fatal heart events through DNA analysis.
2. CardioScreen® – Sudden Cardiac Arrest Prevention:
Focused on evaluating mutations related to sudden cardiac death (sine materia) in individuals without structural heart abnormalities.
How is the CardioScreen® test performed?
The CardioScreen® test is conducted using a blood sample. DNA is isolated from nucleated cells using a complex laboratory analysis and amplified using the Polymerase Chain Reaction (PCR) technique. The DNA is then sequenced using Next Generation Sequencing (NGS) techniques with Illumina sequencing devices, applying innovative Massively Parallel Sequencing (MPS) technology.
What is the Accuracy of the CardioScreen® Test?
Current DNA sequencing techniques produce highly accurate results, with an estimated accuracy rate above 99%. However, the following limitations should be noted:
- The test only evaluates genes listed in the table.
- Mutations located in intragenic regions more than ±5 nucleotides from breakpoints, large deletions, inversions, or duplications larger than 20 base pairs, and germline mosaic mutations found only in gametes are not detected by this test.
Negative result: A lack of mutations in the analyzed genes does not rule out the possibility of mutations in other genomic regions not tested during the analysis. In some cases, a genomic analysis may reveal a DNA variation with unclear or indeterminate clinical significance, based on the latest scientific-medical knowledge.
What are the Benefits of the Test?
- Identification of family members at high risk of inherited cardiomyopathies or sudden cardiac arrest.
- Implementation of appropriate medical screening programs for high-risk individuals to facilitate preventive measures.
- Awareness of the possibility of genetic mutation transmission to future generations and identification of children at high risk for germline mutations.
How are the Test Results Interpreted?
Positive:
The presence of one or more mutations indicates that the test has detected one or more mutations in the genes related to sudden cardiac arrest. Genetic counseling will help explain the implications of these results.
Negative:
The absence of mutations means no mutations were detected in the analyzed genes. However, this does not mean the person is not at risk of developing a cardiomyopathy or experiencing a sudden cardiac arrest, as not all forms are related to genetic factors.