Logo-Dreamgenics
Logo-Dreamgenics

Cardiology

The identification of the genetic cause of cardiovascular diseases is essential to make a correct diagnosis in order to choose the most appropriate therapeutic approach.
Clinical areas
DG Heart disease
Cardiomyopathies
Channelopathies
Rasopathies
Aortopathies
Pulmonary hypertension
Hypercholesterolemia
Congenital heart disease
Broader studies
DG Exome®
DG Clinical Exome®
Documentation
Application form
Informed consent
Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • gDNA (>30 ng/μl in >100 μl TE buffer)

Remember to label each sample with the patient's first and last name or with the identifier used on the request form.

DG Heart disease

ABCC8, ABCC9, ABCG5, ABCG8, ACTA2, ACTC1, ACTN2, ACVRL1, AGK, AKAP9, ANK2, ANKRD1, APOB, APOE, APPL1, B3GAT3, BAG3, BGN, BLK, BMP10, BMPR1A, BMPR1B, BMPR2, BRAF, CACNA1C, CACNA1D, CACNA2D1, CACNB2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CAVIN4, CBL, CCDC115, CDH2, CEL, CHRM2, CHST14, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COMT, CRYAB, CYP7A1, CSRP3, CTNNA3, CTNNB1, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EIF2AK3, EIF2AK4, ELAC2, ELN, EMD, ENG, EPG5, EYA4, FBN1, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNA, FLT4, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GCK, GDF1, GDF2, GJB5, GLA, GLIS3, GPD1L, HAND2, HCN4, HFE, HNF1A, HNF1B, HNF4A, HRAS, ILK, INS, JAG1, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KIF20A, KLF11, KRAS, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LIPA, LMNA, LOX, LZTR1, MAP2K1, MAP2K2, MAT2A, MED12, MFAP5, MIB1, MRAS, MRPL44, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOZ2, MYPN, NEBL, NEUROD1, NEXN, NF1, NKX2-5, NKX2-6, NNT, NOTCH1, NOTCH3, NPPA, NRAS, PAX4, PAX6, PCSK9, PDLIM3, PDX1, PKP2, PLN, PLOD1, PPARG, PPCS, PPP1CB, PRDM16, PRKAG2, PRKG1, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RANGRF, RASA2, RBM20, RIT1, RRAS, RRAS2, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCNN1A, SDHA, SEMA3A, SGCD, SHOC2, SKI, SLC2A10, SLC22A5, SLC25A3, SLC25A4, SLC4A3, SLMAP, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SNTA1, SOS1, SOS2, SPRED1, STAP1, SYNE1, SYNE2, TAF1A, TAZ, TBX1, TBX20, TBX4, TBX5, TCAP, TKFC, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM199, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL, ZFPM2.

Targeted exome that includes 244 genes associated or potentially associated with the development of inherited cardiovascular diseases. Indicated in complex cases without a clinically determined diagnosis.

Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Cardiomyopathies

Cardiomyopathies are diseases of the heart muscle in which the myocardium is weakened, dilated or has another structural problem that affects its ability to pump blood properly, potentially leading to heart failure. We provide a general panel that includes the analysis of the genes associated with the most frequent types of cardiomyopathy (hypertrophic, dilated, arrhythmogenic, restrictive and non-compaction) or the specific study of each of them.

Studies included
A2ML1, ABCC9, ACTC1, ACTN2, AGK, ALPKK3, ANKRD1, APOE, BAG3, BRAF, CALR3, CAV3, CAVIN4, CBL, CDH2, CHRM2, CITED2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EIF2AK3, ELAC2, EMD, EPG5, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FLNA, GAA, GATA4, GATA5, GATA6, GATAD1, GDF1, GJA5, GLA, HAND2, HCN4, HFE, HRAS, JAG1, JPH2, JUP, KCNJ2, KCND3, KCNE3, KCNE5, KCNJ8, KIF20A, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MRPL44, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NOTCH1, NPPA, NRAS, PDLIM3, PKP2, PLN, PPARG, PPCS, PPP1CB, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RASA2, RBM20, RIT1, RRAS, RRAS2, RYR2, SCN5A, SDHA, SGCD, SHOC2, SMAD6, SLC22A5, SLC25A3, SLC25A4, SOS1, SOS2, SYNE1, SYNE2, TAF1A, TAZ, TBX1, TBX20, TCAP, TGFB3, TKFC, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL, ZFPM2.
ACTC1, ACTN2, AGK, ALPKK3, ANKRD1, ELAC2, CALR3, CAV3, CSRP3, DES, FXN, FHL1, FLNC1, FHOD3, GAA, GLA, GYS1, JPH2, KLF10, LAMP2, LDB3, MRPL44, MT01, QRSL1, SLC25A4, TKFC, A2ML1, BRAF, CBL, HRAS, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MRAS, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYO6, MYPN, NEBL, NEXN, NRAS, PLN, PRKAG2, PPARG, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, RYR2, SHOC2, SLC25A3, SOS1, SOS2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, VLC, TCAP.
ABCC9, ACTA1, ACTC1, ACTN2, ANKRD1, BAG3, CAP2, CAVIN4, CHRM2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSG2, DSP, EMD, EPG5, EYA4, FHL2, FKTN, FLNC, GATAD1, HAND2, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PDLIM3, PKP2, PLN, PPCS, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, TAF1A, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TXNRD2, VCL.
ABCC9, AKAP9, CACNA1C, CACNA2D1, CACNR2, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GPDL1, HCN4, JUP, KCND3, KCNE3, KCNE5, KCNJ8, LDB3, LMNA, PKP2, PLN, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN5A, SCNN1A, SEMA3A, SLMAP, SYNE1, SYNE2, TGFB3, TMEM43, TRPM4, TTN.
ACTC1, ACTN2, DES, FHL1, FLNC, GLA, KIF20A, MYBPC3, MYH7, MYL2, MYL3,MYPN, NPPA, SCN5A, TNNC1, TNNI3, TNNT2, MPM1, TTR.
ACTC1, ACTN2, DMD, DNAJC19, DTNA, FHL1, FHOD3, HCNA4, LDB3, LMNA, MYL2, MYBPC3, MYH7, NKX2-5, PLN, PRDM16, RYR2, TNNI3, TNNT2, TPM1, TAZ, TBX20, TTN.
CITED2, FLT4, GATA4, GATA5, GATA6, GDF1, GJA5, JAG1, NKX2-5, NKX2-6, TBX1, TBX20, ZFPM2, NOTCH1, SMAD6, RASA1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Channelopathies

Channelopathies are genetic diseases of the heart's ion channels, which control the electrical activity of the heart, and can therefore cause alterations in heart rhythm, increasing the risk of arrhythmias and sudden death in the patient. We study the genes associated with the most common channelopathies such as long QT syndrome, Brugada syndrome and Catecholaminergic Polymorphic Ventricular Polymorphic Tachycardia, among other related pathologies.

Studies included
ABCC9, ACTC1, AKAP9, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, DES, DPP6, EMD, GAA, GJA5, GLA, GPD1L, HCN4, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, NPPA, PKP2, PRKAG2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCNN1A, SEMA3A, SLC22A5, SLC4A3, SLMAP, SNTA1, TBX5, TNNI3K, TECRL, TRDN, TRPM4, TTR.
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, RYR2, SCN4B, SCN5A, SLC22A5, SNTA1, TECRL, TRDN.
KCNH2, KCNJ2, KCNQ1, SLC22A5, CACNA1C, CACNA2D1, CACNB2, CACNA1D.
ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5, KCNJ8, PKP2, RANGRF, SCN1B, SCN10A, SCN2B, SCN3B, SCN5A, SCNN1A, SEMA3A, SLMAP, TRPM4.
ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN.
ACTC1, CACNA1D, DES, EMD, GAA, GJA5, GLA, HCN4, KCNJ2, LAMP2, LMNA, MYH6, NKX2-5, PRKAG2, SCN1B, SCN5A, SLC22A5, TBX5, TNNI3K, TRPM4, TTR.
ACTC1, EMD, GJA5, HCNA4, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNJ2, KCNQ1, LMNA, NKX2-5, NPPA, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, TBX5, TTR.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Rasopathies

Rasopathies refer to a group of syndromes whose genetic cause lies in the alteration of the Ras/MAPK cell signalling pathway. Clinical manifestations include heart defects in more than 50% of patients. The study includes the analysis of genes associated with Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius syndrome among other rasopathies.

Studies included
A2ML1, BRAF, CBL, FGD1, HRAS, JAG1, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Aortopathies

Aortopathies are a group of diseases of genetic cause associated with the predisposition or development of aneurysms, dissections and rupture of the aorta or other vessels of the arterial system. We include the study of connective tissue pathologies, such as Marfan, Ehlers-Danlos, Loeys-Dietz and Shprintzen-Goldberg syndromes, and thoracic aortic aneurysms and familial aortic dissections (TAAD).

Studies included
ACTA2, ADAMTSL4, B3GAT3, BGN, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FKBP14, FLNA, FOXE3, GAA, GATA5, HRAS, KCNJ8, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NKX2-5, NOTCH1, PLOD1, PRKG1, PTPN11, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZDHHC9.
FBN1, TGFBR1, TGFBR2.
ACTA2, BGN, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ELN, FBN1, FBN2, FOXE3, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2.
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2.
FBN1, SKI.
ADAMTS2, ADAMTSL2 ,AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469.
ACTA2, BGN, COL3A1, ELN, FBN1, FOXE3, LOX, MAT2A, MFAP5, MYH11, MYLK, PRKG1, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Pulmonary hypertension

Pulmonary hypertension is a rare disease defined by an abnormal increase in pulmonary blood pressure secondary to thickening of the walls of the pulmonary arteries. This condition requires the heart to work harder to force blood through these narrowed pulmonary arteries, resulting in symptoms of heart failure. This study includes the analysis of the BMPR2 and EIF2AK4 genes among others associated with the pathology. 

Studies included
ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, NOTCH3, RASA1, SMAD1, SMAD4, SMAD9, TBX4.
ACVRL1, ENG, GDF2, SMAD4.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hypercholesterolemia

Hypercholesterolemia refers to high blood cholesterol levels as it is associated with an increased risk of cardiovascular disease at an early age. Due to its polygenic origin we offer the study of 12 genes associated with hypercholesterolemia including familial hypercholesterolemia.

Studies included
ABCG5, ABCG8, APOB, APOE, CCDC115, CYP7A1, LDLR, LDLRAP1, LIPA, PCSK9, STAP1, TMEM199.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Congenital heart disease

Congenital heart diseases are a group of diseases characterised by the presence of structural alterations of the heart caused by defects in its formation during the embryonic period. The vast majority of congenital heart diseases have a multifactorial aetiology, although it is estimated that 8-10% of the cases are due to a chromosomal anomaly, and 3-5% are associated with a monogenic syndrome. We include the study of 130 genes associated with syndromic and non-syndromic congenital heart disease. 

Studies included
A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MIB2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days