Dilated Cardiomyopathy

Dilated cardiomyopathy panel [121 genes]: this panel is indicated as a first diagnostic approach upon clinical suspicion of familial or idiopathic DCM. This is the most complete panel on the market for this pathology, including genes that can also be associated with cardiac conduction diseases and/or muscle alterations, both in clinical and subclinical phase.

It includes priority genes recommended in clinical practice guidelines and clearly associated with this disease. Sporadically associated secondary genes are also included, along with candidate genes gathered from a systematic literature review.

Informed consent
ACTC1BAG3DESDMDDSPEMDFLNCLMNAMYBPC3MYH7
PKP2PLNRBM20SCN5ATNNC1TNNI3TNNT2TPM1TTNACTA1
ACTN2ALMS1ALPK3ANO5CRYABDNAJC19DOLKDSC2DSG2EYA4
FHOD3FKRPFKTNGAAGATA4GLB1GYG1HFEJUPLAMA2
LAMP2MYBPHLMYL2MYOTMYPNNKX2-5PPA2PPCSPRDM16QRSL1
RYR2SDHASGCDSGCGSLC22A5SPEGTAZTBX20TCAPTMEM43
TNNI3KTRIM63TTRZBTB17ABCC9*AKT1*ANKRD1*BRAF*CALR3*CASZ1*
CAV3*CAVIN4*CHRM2*COL7A1*CSRP3*DNM1L*DTNA*FBXO32*FHL1*FHL2*
GATA5*GATA6*GATAD1*GLA*GSK3B*IDH2*ILK*JARID2*KCNJ2*LAMA4*
LDB3*LMOD2*MEF2C*MIB1*MYH6*MYL3*NEBL*NEXN*NONO*NRAP*
OBSCN*OPA3*PDLIM3*PKD2*PPP1R13L*PRKAG2*PSEN1*PSEN2*PTPN11*RAF1*
RBM24*SGCA*SGCB*SYNE1*SYNE2*TMOD1*TOR1AIP1*TXNRD2*VCL*
WISP1*XK*

Cardiomyopathies panel [204 genes]: it includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.

It includes priority genes that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.

Study requisition form
Informed consent

Arrhythmias global panel [251 genes]: this panel is mainly aimed at the diagnosis of cases where it is not possible to establish a clearly defined phenotype, but where cardiac arrhythmias are the main manifestation.

It is mainly intended for subjects with personal or familial history of sudden death with unknown origin or subjects with ventricular fibrillation of unknown origin that meet the above-mentioned characteristics.

Study requisition form
Informed consent

Cardiovascular diseases global panel [405 genes]: this panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent

This panel is indicated as a first diagnostic approach upon clinical suspicion of familial or idiopathic DCM. This is the most complete panel on the market for this pathology, including genes that can also be associated with cardiac conduction diseases and/or muscle alterations, both in clinical and subclinical phase.

It includes priority genes recommended in clinical practice guidelines and clearly associated with this disease. Sporadically associated secondary genes are also included, along with candidate genes gathered from a systematic literature review.

Informed consent
ACTC1BAG3DESDMD
DSPEMDFLNCLMNA
MYBPC3MYH7PKP2PLN
RBM20SCN5ATNNC1TNNI3
TNNT2TPM1TTNACTA1
ACTN2ALMS1ALPK3ANO5
CRYABDNAJC19DOLKDSC2
DSG2EYA4FHOD3FKRP
FKTNGAAGATA4GLB1
GYG1HFEJUPLAMA2
LAMP2MYBPHLMYL2MYOT
MYPNNKX2-5PPA2PPCS
PRDM16QRSL1RYR2SDHA
SGCDSGCGSLC22A5SPEG
TAZTBX20TCAPTMEM43
TNNI3KTRIM63TTRZBTB17
ABCC9*AKT1*ANKRD1*BRAF*
CALR3*CASZ1*CAV3*CAVIN4*
CHRM2*COL7A1*CSRP3*DNM1L*
DTNA*FBXO32*FHL1*FHL2*
GATA5*GATA6*GATAD1*GLA*
GSK3B*IDH2*ILK*JARID2*
KCNJ2*LAMA4*LDB3*LMOD2*
MEF2C*MIB1*MYH6*MYL3*
NEBL*NEXN*NONO*NRAP*
OBSCN*OPA3*PDLIM3*PKD2*
PPP1R13L*PRKAG2*PSEN1*PSEN2*
PTPN11*RAF1*RBM24*SGCA*
SGCB*SYNE1*SYNE2*TMOD1*
TOR1AIP1*TXNRD2*VCL*WISP1*
XK*

It includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.

It includes priority genes that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.

Study requisition form
Informed consent

This panel is mainly aimed at the diagnosis of cases where it is not possible to establish a clearly defined phenotype, but where cardiac arrhythmias are the main manifestation.

It is mainly intended for subjects with personal or familial history of sudden death with unknown origin or subjects with ventricular fibrillation of unknown origin that meet the above-mentioned characteristics.

Study requisition form
Informed consent

This panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

This panel is indicated as a first diagnostic approach upon clinical suspicion of familial DCM:

  • It can identify the causative mutation, which confirms the diagnosis of the disease and constitutes an important tool for differential diagnosis, since its presentation frequently overlaps with other cardiomyopathies.
  • Not all mutations in different genes show a similar behavior: they are usually associated with a specific set of symptoms and with a different prognosis (for example LMNA mutations). This helps performing the appropriate risk stratification for the disease and foreseeing possible complications.
  • By detecting a pathogenic mutation, the test can be used with a predictive value, constituting the cornerstone of genetic counseling. It is a cost-effective strategy for family monitoring, since it allows detecting carriers at risk who must follow the appropriate clinical monitoring (given that they are highly likely to develop the disease in the future). Contrarily, non-carriers present the same risk as the general population.
  • 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, 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.
  • Hershberger RE, MD, Siegfried JD. Clinical and Genetic Issues in Familial Dilated Cardiomyopathy. Am Coll Cardiol. 2011 April 19; 57(16): 1641–1649.

The probability of detecting a causative mutation in a patient under suspicion of familial dilated cardiomyopathy is close to 50%. In any event, diagnostic yield depends on multiple variables such as number of relatives affected, clinical suspicion, age, race, origin, etc.

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