Health in Code

Dilated Cardiomyopathy

Dilated cardiomyopathy panel [121]

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.

Study requisition form

Informed consent

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ACTC1	BAG3	DES	DMD	DSP	EMD	FLNC	LMNA	MYBPC3	MYH7
PKP2	PLN	RBM20	SCN5A	TNNC1	TNNI3	TNNT2	TPM1	TTN	ACTA1
ACTN2	ALMS1	ALPK3	ANO5	CRYAB	DNAJC19	DOLK	DSC2	DSG2	EYA4
FHOD3	FKRP	FKTN	GAA	GATA4	GLB1	GYG1	HFE	JUP	LAMA2
LAMP2	MYBPHL	MYL2	MYOT	MYPN	NKX2-5	PPA2	PPCS	PRDM16	QRSL1
RYR2	SDHA	SGCD	SGCG	SLC22A5	SPEG	TAZ	TBX20	TCAP	TMEM43
TNNI3K	TRIM63	TTR	ZBTB17	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*

Cardiomyopathies general panel [204]

Cardiomyopathies general 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.

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Study requisition form

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Informed consent

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

Cardiomyopathies, Arrhythmias, and Sudden Death General 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.

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Study requisition form

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Informed consent

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Cardiovascular diseases general panel [405]

Cardiovascular diseases general 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).

View panel

Study requisition form



Informed consent



Dilated cardiomyopathy panel [121]

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.

Study requisition form

Informed consent



ACTC1	BAG3	DES	DMD
DSP	EMD	FLNC	LMNA
MYBPC3	MYH7	PKP2	PLN
RBM20	SCN5A	TNNC1	TNNI3
TNNT2	TPM1	TTN	ACTA1
ACTN2	ALMS1	ALPK3	ANO5
CRYAB	DNAJC19	DOLK	DSC2
DSG2	EYA4	FHOD3	FKRP
FKTN	GAA	GATA4	GLB1
GYG1	HFE	JUP	LAMA2
LAMP2	MYBPHL	MYL2	MYOT
MYPN	NKX2-5	PPA2	PPCS
PRDM16	QRSL1	RYR2	SDHA
SGCD	SGCG	SLC22A5	SPEG
TAZ	TBX20	TCAP	TMEM43
TNNI3K	TRIM63	TTR	ZBTB17
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*

Cardiomyopathies general panel [204]

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.

View panel

Study requisition form



Informed consent



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

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.

View panel

Study requisition form



Informed consent



Cardiovascular diseases general panel [405]

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.

View panel

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.

Indication for genetic testing

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.

Guidelines / Task force / Position statement

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.

Yield of genetic testing

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.