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Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy basic 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).
| ACTC1 | DES | FHL1 | FHOD3 | GLA | LAMP2 | MYBPC3 | MYH7 | MYL2 | MYL3 |
| PRKAG2 | PTPN11 | TNNC1 | TNNI3 | TNNT2 | TPM1 | TRIM63 | TTR |
Hypertrophic cardiomyopathy extended 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.
| ACTC1 | DES | FHL1 | FHOD3 | GLA | LAMP2 | MYBPC3 | MYH7 | MYL2 | MYL3 |
| PRKAG2 | PTPN11 | TNNC1 | TNNI3 | TNNT2 | TPM1 | TRIM63 | TTR | AARS2 | ACAD9 |
| ACADVL | ACTA1 | ACTN2 | AGK | AGL | AGPAT2 | ALPK3 | ATPAF2 | BRAF | CAV3 |
| COA5 | COA6 | COQ2 | COX15 | COX6B1 | CSRP3 | DLD | FAH | FHL2 | FLNC |
| FOXRED1 | GAA | GFM1 | GLB1 | GNPTAB | GUSB | GYG1 | HRAS | JPH2 | KLHL24 |
| KRAS | LIAS | LZTR1 | MAP2K1 | MAP2K2 | MLYCD | MRPL3 | MRPL44 | MRPS22 | MTO1 |
| MYOZ2 | NF1 | NRAS | PLN | PMM2 | RAF1 | SCO2 | SHOC2 | SLC22A5 | SLC25A3 |
| SLC25A4 | SOS1 | SURF1 | TMEM70 | AKT1* | 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.
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.
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).
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).
| ACTC1 | DES | FHL1 | FHOD3 |
| GLA | LAMP2 | MYBPC3 | MYH7 |
| MYL2 | MYL3 | PRKAG2 | PTPN11 |
| TNNC1 | TNNI3 | TNNT2 | TPM1 |
| TRIM63 | TTR |
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.
| ACTC1 | DES | FHL1 | FHOD3 |
| GLA | LAMP2 | MYBPC3 | MYH7 |
| MYL2 | MYL3 | PRKAG2 | PTPN11 |
| TNNC1 | TNNI3 | TNNT2 | TPM1 |
| TRIM63 | TTR | AARS2 | ACAD9 |
| ACADVL | ACTA1 | ACTN2 | AGK |
| AGL | AGPAT2 | ALPK3 | ATPAF2 |
| BRAF | CAV3 | COA5 | COA6 |
| COQ2 | COX15 | COX6B1 | CSRP3 |
| DLD | FAH | FHL2 | FLNC |
| FOXRED1 | GAA | GFM1 | GLB1 |
| GNPTAB | GUSB | GYG1 | HRAS |
| JPH2 | KLHL24 | KRAS | LIAS |
| LZTR1 | MAP2K1 | MAP2K2 | MLYCD |
| MRPL3 | MRPL44 | MRPS22 | MTO1 |
| MYOZ2 | NF1 | NRAS | PLN |
| PMM2 | RAF1 | SCO2 | SHOC2 |
| SLC22A5 | SLC25A3 | SLC25A4 | SOS1 |
| SURF1 | TMEM70 | AKT1* | 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.
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.
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).
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.
- Elliott PM, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014; 35(39):2733-2779
- Gersh BJ, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: A report of the American College of cardiology foundation/American heart association task force on practice guidelines. Circulation. 2011;124(24)
- 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
The probability of detecting a likely causal mutation in a patient under suspicion of familial hypertrophic cardiomyopathy with our basic 18-gene panel is close to 60%, which can be increased by using our extended 118-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.
