Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy panel [18 genes]: Our basic HCM panel is indicated as a first diagnostic approach upon clinical suspicion of HCM.

It includes the main 9 sarcomeric genes associated with the disease, and it also contains 9 disease-associated genes whose clinical presentation can be indistinguishable from classic HCM (phenocopies).

Informed consent
ACTC1DESFHL1FHOD3GLALAMP2MYBPC3MYH7MYL2MYL3
PRKAG2PTPN11TNNC1TNNI3TNNT2TPM1TRIM63TTR

Hypertrophic cardiomyopathy full panel [118 genes]: It includes both the primary sarcomeric genes and all phenocopies of the disease, as well as secondary and candidate genes gathered from a systematic literature review. It is indicated when:

· The basic panel study is negative and there is a clear HCM phenotype, since it improves diagnostic yield.
· Severe phenotypes or phenotypes associated with syndromes and other rare genetic diseases are detected.
· An exhaustive genetic study of this pathology is intended, since this is the most complete panel for HCM on the market.

Informed consent
ACTC1DESFHL1FHOD3GLALAMP2MYBPC3MYH7MYL2MYL3
PRKAG2PTPN11TNNC1TNNI3TNNT2TPM1TRIM63TTRAARS2ACAD9
ACADVLACTA1ACTN2AGKAGLAGPAT2ALPK3ATPAF2BRAFCAV3
COA5COA6COQ2COX15COX6B1CSRP3DLDFAHFHL2FLNC
FOXRED1GAAGFM1GLB1GNPTABGUSBGYG1HRASJPH2KLHL24
KRASLIASLZTR1MAP2K1MAP2K2MLYCDMRPL3MRPL44MRPS22MTO1
MYOZ2NF1NRASPLNPMM2RAF1SCO2SHOC2SLC22A5SLC25A3
SLC25A4SOS1SURF1TMEM70AKT1*ANK2*ANKRD1*ATP5F1E*BAG3*BSCL2*
C10orf71*CACNA1C*CALR*CALR3*CASQ2*CAVIN4*CBL*CDH2*CRYAB*DSP*
ELAC2*FXN*GATA6*KCNJ8*KLF10*LDB3*LMNA*MEF2C*MYH6*MYLK2*
MYOM1*NEXN*PDHA1*PDLIM3*PHKA1*PPA2*PPP1CB*QRSL1*RIT1*SOS2*
TAZ*TCAP*TMOD1*TRIM54*TSFM*TTN*VCL*WISP1*

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.

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

Our basic HCM panel is indicated as a first diagnostic approach upon clinical suspicion of HCM.

It includes the main 9 sarcomeric genes associated with the disease, and it also contains 9 disease-associated genes whose clinical presentation can be indistinguishable from classic HCM (phenocopies).

Informed consent
ACTC1DESFHL1FHOD3
GLALAMP2MYBPC3MYH7
MYL2MYL3PRKAG2PTPN11
TNNC1TNNI3TNNT2TPM1
TRIM63TTR

It includes both the primary sarcomeric genes and all phenocopies of the disease, as well as secondary and candidate genes gathered from a systematic literature review. It is indicated when:

· The basic panel study is negative and there is a clear HCM phenotype, since it improves diagnostic yield.

· Severe phenotypes or phenotypes associated with syndromes and other rare genetic diseases are detected.

· An exhaustive genetic study of this pathology is intended, since this is the most complete panel for HCM on the market.

Informed consent
ACTC1DESFHL1FHOD3
GLALAMP2MYBPC3MYH7
MYL2MYL3PRKAG2PTPN11
TNNC1TNNI3TNNT2TPM1
TRIM63TTRAARS2ACAD9
ACADVLACTA1ACTN2AGK
AGLAGPAT2ALPK3ATPAF2
BRAFCAV3COA5COA6
COQ2COX15COX6B1CSRP3
DLDFAHFHL2FLNC
FOXRED1GAAGFM1GLB1
GNPTABGUSBGYG1HRAS
JPH2KLHL24KRASLIAS
LZTR1MAP2K1MAP2K2MLYCD
MRPL3MRPL44MRPS22MTO1
MYOZ2NF1NRASPLN
PMM2RAF1SCO2SHOC2
SLC22A5SLC25A3SLC25A4SOS1
SURF1TMEM70AKT1*ANK2*
ANKRD1*ATP5F1E*BAG3*BSCL2*
C10orf71*CACNA1C*CALR*CALR3*
CASQ2*CAVIN4*CBL*CDH2*
CRYAB*DSP*ELAC2*FXN*
GATA6*KCNJ8*KLF10*LDB3*
LMNA*MEF2C*MYH6*MYLK2*
MYOM1*NEXN*PDHA1*PDLIM3*
PHKA1*PPA2*PPP1CB*QRSL1*
RIT1*SOS2*TAZ*TCAP*
TMOD1*TRIM54*TSFM*TTN*
VCL*WISP1*

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.

The genetic study is indicated in clinical practice guidelines upon suspicion of the disease:

  • It allows confirming the clinical suspicion and is also an important tool for differential diagnosis of the disease.
  • An adequate and correct diagnosis of the disease allows for risk stratification. The identification of the responsible mutation also provides prognostic information about the disease, with our group in the lead of this genetic field.
  • The test has a predictive value for the disease when a pathogenic mutation is found. It then becomes the basis for genetic counseling, constituting a cost-effective strategy for family monitoring: carriers should undergo appropriate monitoring and risk stratification of the disease; non-carriers present the same risk as the general population.

The probability of detecting a likely causal mutation in a patient under suspicion of familial hypertrophic cardiomyopathy with our basic 17-gene panel is close to 60%, which can be increased by using our extended 104-gene panel. In any case, diagnostic yield depends on multiple variables such as number of relatives affected, clinical suspicion, age, race, institution of origin, etc.

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