Cardiac Diseases

Analysis of all known genes associated with cardiac diseases

Cardiovascular diseases include structural changes in the heart muscle tissue (cardiomyopathy), deviations and irregularities in the heartbeat (cardiac arrhythmias), or other modifications that trigger disorders concerning blood circulation. The Diagnostic Panel for Cardiac Diseases comprises 220 genes and, in addition to individual cardiovascular diseases, primarily covers genetically mediated cardiomyopathies, cardiac arrhythmias, familial hypercholesterolemias, and congenital heart defects. Furthermore, our panel also offers diagnostics for RASopathies (including Noonan’s syndrome), a clinically and genetically heterogeneous group of diseases caused by dysregulation of the RAS-MAPK signaling pathway. If this signal path is disturbed, malformations in the heart and other organs can result.

The Diagnostic Panel for Cardiac Diseases is based on our proprietary, high-quality ExomeXtra® enrichment, covering all protein-coding regions as well as intronic and intergenic variants described as disease-relevant in the databases HGMD and ClinVar. In addition, the ExomeXtra® enrichment enables a genome-wide CNV calling with similar performance to array CGH. It thus provides the ideal basis for genetic diagnostics.

Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!

What We Offer with the Panel for Cardiac Diseases

Highest Quality

The panel covers 220 genes, divided into thirteen different gene sets

Flexibility

Gene sets can be requested individually or in combination with other gene sets

Sensitivity

> 99.9% for heterozygous variant; average coverage
> 140x

Comprehensive Medical Report

Created by our interdisciplinary team of experts

Our Promise to You

Fast Turnaround Time

2–4 weeks after sample receipt

Safety

Highest confidentiality and quality standards

Reliability

Reliable support throughout all steps

Comprehensibility

Clearly prepared medical report

Your Benefits

It is possible to request single or multiple predefined gene sets. In addition to the complete analysis of the genes of the requested gene set, we extend the analysis by additional genes for differential diagnosis. We report variants of unknown significance (ACMG class 3) and pathogenic and probably pathogenic variants (ACMG classes 4 and 5) for the primarily ordered gene set. For the genes included due to differential diagnosis, we restrict the reporting to pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which could be related to the indication of the person seeking advice.

The Diagnostic Panel for Cardiac Diseases is based on the CeGaT’s ExomeXtra® enrichment. This allows, without additional sequencing, phenotypically eligible gene sets of other CeGaT panels or single genes to be additionally ordered. If you would like to assemble an individual panel, please feel free to contact us. We will be happy to support you.

In addition to the primary diagnostic assignment, the assessment of ACMG genes and pharmacogenetic profiling may also be ordered.

Method

The enrichment of the coding regions and the adjacent intronic regions is performed using an in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house. High-throughput sequencing is performed on our Illumina platforms. Bioinformatic processing of the data is achieved using an in-house computer cluster.

Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.

Sample Report

Information: The example report on epilepsy and brain development disorders illustrates how a report is structured.

General Information

Material

  • 1-2 ml EDTA blood (recommended sample type) or
  • 1-2 µg genomic DNA
  • Order Form with declaration of consent

Here you can find more information on how to ship your sample safely.

Costs

The prices for our human genetic diagnostics depend on the size of the selected diagnostic panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.

Diagnostic Process

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Counseling & Test Selection

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Sampling & Shipment

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Sample Analysis

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Medical Report & Counseling

Gene Sets – Cardiac Diseases

Cardiomyopathy, Dilated (HRT01, 50 Genes)

ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, BAG5, CRYAB, CSRP3, DES, DMD, DOLK, DSG2, DSP, EMD, FKTN, FLNC, JPH2, LAMA4, LAMP2, LDB3, LMNA, LMOD2, MYBPC3, MYH6, MYH7, MYPN, NEXN, NKX2-5, PKP2, PLN, PPCS, PRDM16, RAF1, RBM20, RPL3L, RYR2, SCN5A, SDHA, SGCD, SPEG, TAFAZZIN, TCAP, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, VCL

Cardiomyopathy, Hypertrophic (HRT02, 31 Genes)

ACTC1, ACTN2, ALPK3, CAV3, CSRP3, DES, FHOD3, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, VCL

Cardiomyopathies are a common and maybe the primary symptom of the highly variable mitochondriopathy spectrum. Particularly neonates and early infantile affected with severe cardiomyopathy should consider a thorough analysis for genetic causes of mitochondrial dysfunction. To assign this analysis please refer to our order form “Metabolic/Mitochondrial Disorders” gene set MIT-01 (mtDNA) and MIT-02 (nuclear-encoded).

Left Ventricular Noncompaction Cardiomyopathy (Nccm/Lvnc) (HRT03, 13 Genes)

ACTC1, ACTN2, DTNA, HCN4, LDB3, MIB1, MYBPC3, MYH7, PRDM16, TAFAZZIN, TNNT2, TPM1, TTN

Short Qt Syndrome (HRT04, 4 Genes)

CACNA1C, KCNH2, KCNJ2, KCNQ1

Long Qt Syndrome (HRT05, 14 Genes)

AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TRDN

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (Arvd/C) (HRT06, 11 Genes)

CDH2, DES, DSC2, DSG2, DSP, FLNC, JUP, LMNA, PKP2, PLN, TMEM43

Brugada Syndrome (HRT07, 8 Genes)

CACNA1C, CACNB2, HCN4, KCND3, KCNH2, SCN1B, SCN5A, TRPM4

Catecholaminergic Polymorphic Ventricular Tachycardia (Cpvt); Paroxysmal/Idiopathic Ventricular Fibrillation / Tachycardia (HRT08, 11 Genes)

ANK2, BAG5, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, SCN5A, TECRL, TRDN

Cardiac Arrhythmias (HRT17, 34 Genes)

AKAP9, ANK2, BAG5, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, DES, DSC2, DSG2, DSP, FLNC, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, PKP2, PLN, RYR2, SCN1B, SCN5A, TECRL, TMEM43, TRDN, TRPM4

Isolated and Syndromal Congenital Heart Defects (HRT09, 109 Genes)

ABL1, ACTA2, ACTC1, ACVR2B, ADAMTS10, ADAMTS19, ADNP, AFF4, B3GAT3, B3GLCT, CAPN15, CBL, CCDC39, CDK13, CFAP53, CFC1, CHD4, CHD7, CITED2, CREBBP, CRELD1, CTNND1, DHCR7, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAI1, DTNA, EHMT1, ELN, EVC, EVC2, FLNA, FLT4, FOXC1, FOXH1, G6PC3, GATA4, GATA5, GATA6, GDF1, GJA1, GPC3, HOXA1, HRAS, HYAL2, JAG1, KDM6A, KMT2D, KYNU, LZTR1, MAP2K1, MAP2K2, MED12, MEGF8, MEIS2, MID1, MMP21, MYH6, MYH7, NADSYN1, NEK8, NIPBL, NKX2-5, NKX2-6, NODAL, NONO, NOTCH1, NOTCH2, NR2F2, ODAD1, PIK3R2, PKD1L1, PLD1, PPP1CB, PRKACA, PRKACB, PRKD1, PTPN11, RAF1, RBM10, RIT1, ROBO1, ROBO4, ROR2, SALL1, SALL4, SH3PXD2B, SOS1, SOS2, SOX17, SPEN, SPRED2, TAB2, TBX1, TBX20, TBX5, TGDS, TLL1, TRAF7, UBR1, WBP11, WDPCP, ZEB2, ZFPM2, ZIC3, ZMYM2, ZNF699

For genes associated with primary ciliary dyskinesia please refer to our order form Ciliopathis (CIL-01).

RASopathy (incl. Noonan Syndrome) (HRT10, 22 Genes)

BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAPK1, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2

Aortic Aneurysm / Loeys-Dietz-Syndrome / Arterial Tortuosity Syndrome (HRT11)

Has been replaced by CTD02: Connective Tissue Diseases (Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses); please use the appropriate order form “Connective Tissue Diseases”.

Pulmonary Arterial Hypertension (HRT15, 11 Genes)

ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNA5, KCNK3, SMAD4, SMAD9, TBX4

Hypercholesterolemia and Primary Hyperlipidemia (HRT16, 12 Genes)

ABCA1, ABCG5, ABCG8, APOA5, APOB, APOC2, APOE, GPIHBP1, LDLR, LDLRAP1, LPL, PCSK9

Gene Directory – Panel for Cardiac Diseases

ABCA1, ABCC9, ABCG5, ABCG8, ABL1, ACTA2, ACTC1, ACTN2, ACVR2B, ACVRL1, ADAMTS10, ADAMTS19, ADNP, AFF4, AKAP9, ALPK3, ANK2, ANKRD1, APOA5, APOB, APOC2, APOE, ATP13A3, B3GAT3, B3GLCT, BAG3, BAG5, BMPR2, BRAF, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CAPN15, CASQ2, CAV1, CAV3, CBL, CCDC39, CDH2, CDK13, CFAP53, CFC1, CHD4, CHD7, CITED2, CREBBP, CRELD1, CRYAB, CSRP3, CTNND1, DES, DHCR7, DMD, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAI1, DOLK, DSC2, DSG2, DSP, DTNA, EHMT1, EIF2AK4, ELN, EMD, ENG, EVC, EVC2, FHOD3, FKTN, FLNA, FLNC, FLT4, FOXC1, FOXH1, G6PC3, GATA4, GATA5, GATA6, GDF1, GDF2, GJA1, GLA, GPC3, GPIHBP1, HCN4, HOXA1, HRAS, HYAL2, JAG1, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNK3, KCNQ1, KDM6A, KDR, KMT2D, KRAS, KYNU, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LMNA, LMOD2, LPL, LZTR1, MAP2K1, MAP2K2, MAPK1, MED12, MEGF8, MEIS2, MIB1, MID1, MMP21, MRAS, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NADSYN1, NEK8, NEXN, NF1, NIPBL, NKX2-5, NKX2-6, NODAL, NONO, NOTCH1, NOTCH2, NR2F2, NRAS, ODAD1, PCSK9, PIK3R2, PKD1L1, PKP2, PLD1, PLN, PPCS, PPP1CB, PRDM16, PRKACA, PRKACB, PRKAG2, PRKD1, PTPN11, RAF1, RASA2, RBM10, RBM20, RIT1, ROBO1, ROBO4, ROR2, RPL3L, RRAS2, RYR2, SALL1, SALL4, SCN1B, SCN5A, SDHA, SGCD, SH3PXD2B, SHOC2, SMAD9, SOS1, SOS2, SOX17, SPEG, SPEN, SPRED1, SPRED2, TAB2, TAFAZZIN, TBX1, TBX20, TBX4, TBX5, TCAP, TECRL, TGDS, TLL1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRAF7, TRDN, TRIM63, TRPM4, TTN, UBR1, VCL, WBP11, WDPCP, ZEB2, ZFPM2, ZIC3, ZMYM2, ZNF699

Additional Services

HLA-Typing (HLA01)

HLA class I (Gene A, B, C) and HLA class II (Gene DPA1, DPB1, DQA1, DQB1, DRB1, DRB3, DRB4, DRB5)

ACMG Genes

Genetic variation may sometimes be identified, which does not fit within the scope of the requested genetic analysis (so-called secondary findings). The reporting of these variants is limited to pathogenic alterations (ACMG classes 4 and 5) within selected genes, for which a treatment or course of action exists for you or your family (according to the current guidelines of the American College of Medical Genetics and Genomics). Details on genes and associated diseases can be found here.

Pharmacogenetics

Pharmacogenetic analysis detects genetic changes that affect the effectiveness of drugs. Genetic variants that affect proteins responsible for the metabolism of substances can significantly change their tolerance and efficacy. These drugs include, among others, antidepressants, pain relievers, neuroleptics, chemotherapeutics, AIDS drugs, thrombosis drugs, anesthetics, beta-blockers, or statins.

The reduced activity of a specific enzyme can lead to an increased drug level in the standard dosage, which is often associated with undesirable side effects. With drugs that are only activated by metabolism, the therapeutic effect can be completely absent. Likewise, due to the resulting increased rate of degradation of the medicinal substance, an increased enzyme activity leads to inadequate effectiveness of the therapy.

The pharmacogenetics option analyzes known variants in twenty-two genes involved in the metabolism of drugs. If specific gene variants occur, the treating doctor can adapt the therapy individually. The pharmacogenetic analysis can minimize serious side effects and helps to avoid failure of the treatment.

Downloads

Order Form HRT
Sample Report EPI

* The example report on epilepsy and brain development disorders illustrates how a report is structured.

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Diagnostic Support

We will assist you in selecting the diagnostic strategy – for each patient.

Keimbahn Team der CeGaT