Cardiac Conduction Disease Panel [44 genes]

There is a large number of genes associated with the development of cardiomyopathies whose first clinical manifestation can be the presence of cardiac conduction disorders, such as atrioventricular blocks. The same is true for some channelopathies. Many of these pathologies may be undiagnosed because their clinical expression can be very mild in the early stages.

  • The genetic study confirms the clinical suspicion, and is itself an important tool in the differential diagnosis of the disease.
  • The proper and correct diagnosis of the disease allows risk stratification. Some mutations in certain genes (for example LMNA) might provide prognosis information about the disease.
  • This test has a predictive value of the disease when a pathogenic mutation is detected: It might be useful in genetic counseling. It allows detecting carriers at risk that should be under adequate clinical monitoring. The detection of non-carriers constitutes a cost-effective strategy, as they present a similar risk as the general population.

The probability of finding a pathogenic mutation when a patient presents cardiac conduction disorders has not been clearly established. However, the probability could be higher in cases where there is a family history of these disorders, and when it occurs in young subjects without a clear cause.

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Cardiac Conduction Disease Panel

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Turnaround time (TAT): 4 weeks

Ref. S-201906449

Cardiac Conduction Disease Panel: View panel

  • This panel is indicated as a first diagnostic approach for a patient with cardiac conduction disorders, especially when there is family history (usually frequent history of pacemaker implantation in several members of the family), and in younger patients where there is no heart disease to explain the disorder.
  • The panel includes priority genes that are clearly related to the disease, some of which are also associated with other cardiomyopathies and channelopathies. Other secondary genes that have been associated with the disease sporadically and candidate genes arising from a systematic review of the literature are included.

  • DES
  • EMD
  • HCN4
  • LAMP2
  • LMNA
  • NKX2-5
  • PRKAG2
  • SCN5A
  • TBX5
  • ACTC1
  • CACNA1D
  • GAA
  • GJA5
  • GLA
  • GNB2
  • KCNJ2
  • MYH6
  • SCN1B
  • SLC22A5
  • TNNI3K
  • TRPM4
  • TTR
  • CALR*
  • CAVIN4*
  • DSC2*
  • DSG2*
  • DSP*
  • GATA4*
  • HFE*
  • IRX3*
  • JUP*
  • KCNE2*
  • KCNH2*
  • KCNK17*
  • KCNQ1*
  • LDB3*
  • MYBPHL*
  • MYH7*
  • NPPA*
  • PITX2*
  • PKP2*
  • RYR2*
  • SCN4B*
  • SLMAP*

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Arrhythmias and Sudden Death without Structural Cardiopathy General Panel [90 genes]

Panel that include cardiac conduction disease genes

Cardiomyopathies, Arrhythmias, and Sudden Death General Panel [251 genes]

Panel that include cardiac conduction disease genes

Cardiovascular Diseases General Panel [405 genes]

Panel that include cardiac conduction disease genes

References

  • Charron P, Arad M, Monserrat L, et al. Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715-2728.
  • Rapezzi C, Arbustini E, Caforio A, et al. Diagnostic work-up in cardiomyopathies: Bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2013;34(19):1448-1458.

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