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Cardiology, neurology, rare and metabolic diseases

Cardiogenetic panels

Comprehensive arrhythmia and cardiomyopathy panel
/ Comprehensive arrhythmia and cardiomyopathy panel
168 Genes

ABCC9 ACADVL ACTC1 ACTN2 AGL ALMS1 ALPK3 BAG3 BRAF CACNA1C CACNA1D CALM1 CALM2 CALM3 CASQ2 CBL CDH2 CPT2 CRYAB CSRP3 DES DMD DNAJC19 DOLK DSC2 DSG2 DSP ELAC2 EMD EYA4 FHL1 FKRP FKTN FLNC GAA GATA4 GATA5 GJA5 GLA HCN4 HRAS JUP KCNE1 KCNH2 KCNJ2 KCNQ1 KRAS LAMP2 LMNA LZTR1 MAP2K1 MAP2K2 MRAS MTO1 MYBPC3 MYH7 MYL2 MYL3 MYL4 MYLK3 NF1 NKX2-5 NRAS PCCA PCCB PKP2 PLN PPA2 PPCS PPP1CB PRKAG2 PTPN11 RAF1 RASA1 RBM20 RIT1 RYR2 SCN5A SDHA SGCD SHOC2 SLC22A5 SOS1 SOS2 SPRED1 TAZ TBX20 TCAP TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TRDN TRPM4 TTN TTR VCL A2ML1 AKAP9 ANK2 ANKRD1 CACNA2D1 CACNB2 CALR3 CAV3 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA6 GATAD1 GPD1L HAND1 ILK JPH2 KCNA5 KCND3 KCNE2 KCNE3 KCNE5 KCNJ5 KCNJ8 KCNK3 KIF20A KLF10 LAMA4 LDB3 LRRC10 MAP3K8 MED12 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NPPA PDLIM3 PLEKHM2 PRDM16 RANGRF RASA2 RRAS SCN10A SCN1B SCN2B SCN3B SCN4B SLMAP SNTA1 TMPO TXNRD2 DEPDC5 KCNA1 KCNQ2 KCNQ3 KCNT1 PCDH19 PRRT2 SCN1A SCN8A SCN9A SLC2A1

Comprehensive arrhythmia panel
/ Comprehensive arrhythmia panel
80 Genes

ABCC9 ACTN2 BAG3 CACNA1C CACNA1D CALM1 CALM2 CALM3 CASQ2 CDH2 DES DSC2 DSG2 DSP EMD FLNC GATA4 GATA5 GJA5 HCN4 JUP KCNE1 KCNH2 KCNJ2 KCNQ1 LMNA MYL4 NKX2-5 PKP2 PLN PPA2 PRKAG2 RBM20 RYR2 SCN5A TMEM43 TNNI3 TNNT2 TRDN TRPM4 TTN AKAP9 ANK2 ANKRD1 CACNA2D1 CACNB2 CAV3 CTNNA3 GATA6 GPD1L KCNA5 KCND3 KCNE2 KCNE3 KCNE5 KCNJ5 KCNJ8 KCNK3 LDB3 NPPA PDLIM3 RANGRF SCN10A SCN1B SCN2B SCN3B SCN4B SLMAP SNTA1 DEPDC5 KCNA1 KCNQ2 KCNQ3 KCNT1 PCDH19 PRRT2 SCN1A SCN8A SCN9A SLC2A1

Short QT syndrome panel
/ Short QT Syndrome Panel
6 Genes

KCNH2 KCNJ2 KCNQ1 CACNA1C CACNA2D1 CACNB2

Long QT syndrome panel
/ Long QT Syndrome Panel
17 Genes

CACNA1C CALM1 CALM2 CALM3 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A TRDN AKAP9 ANK2 CAV3 KCNE2 KCNJ5 SCN4B SNTA1

Brugada syndrome panel
/ Brugada Syndrome Test
20 Genes

SCN5A ABCC9 CACNA1C CACNA2D1 CACNB2 GPD1L HCN4 KCND3 KCNE3 KCNE5 KCNH2 KCNJ8 PKP2 RANGRF SCN10A SCN1B SCN2B SCN3B SLMAP TRPM4

Polymorphic Ventricular Tachycardia Panel
/ Polymorphic Ventricular Tachycardia Panel
7 Genes

CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TRDN

Comprehensive cardiomyopathy panel
/ Comprehensive cardiomyopathy panel
121 Genes

ABCC9 ACADVL ACTC1 ACTN2 AGL ALMS1 ALPK3 BAG3 BRAF CACNA1C CBL CPT2 CRYAB CSRP3 DES DMD DNAJC19 DOLK DSC2 DSG2 DSP ELAC2 EMD EYA4 FHL1 FKRP FKTN FLNC GAA GLA HCN4 HRAS JUP KRAS LAMP2 LMNA LZTR1 MAP2K1 MAP2K2 MRAS MTO1 MYBPC3 MYH7 MYL2 MYL3 MYLK3 NF1 NRAS PCCA PCCB PKP2 PLN PPCS PPP1CB PRKAG2 PTPN11 RAF1 RASA1 RBM20 RIT1 RYR2 SCN5A SDHA SGCD SHOC2 SLC22A5 SOS1 SOS2 SPRED1 TAZ TBX20 TCAP TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TTN TTR VCL A2ML1 ANKRD1 CALR3 CAV3 CDH2 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 HAND1 ILK JPH2 KIF20A KLF10 LAMA4 LDB3 LRRC10 MAP3K8 MED12 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 RASA2 RRAS TMPO TXNRD2

Hypertrophic Cardiomyopathy Panel
/ Hypertrophic Cardiomyopathy Panel
44 Genes

ACADVL, ACTC1, ACTN2, AGL, ALPK3, BAG3, CACNA1C, CPT2, CSRP3, DES, ELAC2, FHL1, FLNC, GAA, GLA, LAMP2, MTO1, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL, ANKRD1, CALR3, CAV3, GATA4, JPH2, KLF10, LDB3, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEXN, PDLIM3

Arrhythmogenic Cardiomyopathy Panel
/ Arrhythmogenic Cardiomyopathy Panel
27 Genes

ACTN2 BAG3 CDH2 DES DSC2 DSG2 DSP EMD FLNC JUP LMNA PKP2 PLN PPA2 PRKAG2 RBM20 RYR2 SCN5A TMEM43 TNNI3 TNNT2 TTN ANKRD1 CTNNA3 LDB3 NKX2-5 PDLIM3

Left ventricular noncompaction and dilated cardiomyopathy panel
/ Left ventricular noncompaction and dilated cardiomyopathy panel
80 Genes

ABCC9, ACADVL, ACTC1, ACTN2, ALMS1, ALPK3, BAG3, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FKRP, FKTN, FLNC, HCN4, JUP, LAMP2, LMNA, MYBPC3, MYH7, MYLK3, PCCA, PCCB, PKP2, PLN, PPCS, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, SLC22A5, TAZ, TBX20, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, ANKRD1, CAV3, CHRM2, CTF1, DTNA, FHL2, GATA4, GATA6, GATAD1, HAND1, ILK, LAMA4, LDB3, LRRC10, MED12, MYH6, MYPN, NEBL, NEXN, NKX2-5, NPPA, PDLIM3, PLEKHM2, PRDM16, TMPO, TXNRD2

Hereditary hemochromatosis panel
/ Hereditary hemochromatosis panel
6 Genes

FTH1, HAMP, HFE, HJV, SLC40A1, TFR2

Amyloidosis test - Transthyretin Amyloid Cardiomyopathy
/ Amyloidosis test - Transthyretin Amyloid Cardiomyopathy
1 Gene

TTR

Comprehensive lipids panel
/ Comprehensive lipids panel
36 Genes

ABCA1 ABCG5 ABCG8 ANGPTL3 APOA1 APOA5 APOB APOC2 CETP CREB3L3 CYP27A1 GPD1 GPIHBP1 LCAT LDLR LDLRAP1 LIPA LIPG LMF1 LPL LRP6 MTTP PCSK9 PNPLA2 SAR1B APOA4 APOC3 CYP7A1 GALNT2 GCKR LIPC LIPI MYLIP PLTP SCARB1 ZHX3

Familial Hypercholesterolemia Panel
/ Familial Hypercholesterolemia Panel
4 Genes

APOB, LDLR, LDLRAP1, PCSK9

Congenital heart disease panel
/ Congenital heart disease panel
55 Genes

ACTC1, ACVR2B, ALMS1, BCOR, BRAF, CASZ1, CBL, CHD7, CRELD1, ELN, FOXH1, GATA4, GATA5, GATA6, GDF1, GJA1, GPC3, HAND1, HAND2, HRAS, JAG1, KDM6A, KMT2D, KRAS, LEFTY2, MAP2K1, MAP2K2, MED13L, MEIS2, MESP1, MYH6, NFATC1, NKX2-5, NKX2-6, NODAL, NOTCH1, NR2F2, NRAS, NSD1, PLD1, PTPN11, RAF1, RBFOX2, RIT1, ROBO1, SHOC2, SMAD6, SOS1, TAB2, TBX1, TBX20, TBX5, TFAP2B, ZFPM2, ZIC3

RASopathies and Noonan syndrome panel
/ RASopathies and Noonan syndrome panel
28 Genes

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, YWHAZ

Vascular malformations and hereditary hemorrhagic telangiectasia panel
/ Vascular malformations and hereditary hemorrhagic telangiectasia panel
6 Genes

ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4

Comprehensive aortopathy panel
/ Comprehensive aortopathy panel
35 Genes

ACTA2, ADAMTS10, BGN, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ARIH1, HCN4, LTBP3, MAT2A, PLOD3, SMAD6

Loeys-Dietz syndrome panel
/ Loeys-Dietz syndrome panel
7 Genes

FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

Ehlers-Danlos syndrome panel
/ Ehlers-Danlos syndrome panel
17 Genes

ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FKBP14, FLNA, P3H1, PLOD1, SLC39A13

Marfan syndrome test
/ Marfan syndrome test
1 Gene

FBN1

Pulmonary hypertension panel
/ Pulmonary hypertension panel
14 Genes

ACVRL1, AQP1, ATP13A3, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNK3, SMAD9, SOX17, TBX4, BMPR1B, KCNA5

Cardiology, neurology, uncommon and metabolic diseases

Our laboratory focuses on the testing of genomic biomarkers, not only in cancer but also in cardiological, neurological, rare and metabolic diseases.

Our R&D team, together with the molecular biology laboratory, design a profile for biomarkers of interest to diagnose these diseases.

When should genetic testing be considered to detect inherited cardiovascular disease?

    • Hypertrophic cardiomyopathy
    • Idiopathic dilated cardiomyopathy
    • Dilated cardiomyopathy with cardiac conduction disease and/or family history of sudden death
    • Familial restrictive cardiomyopathy
    • Transthyretin amyloidosis
    • Fabry's disease
    • Arrhythmogenic right ventricular cardiomyopathy
    • Long QT syndrome (LQTS)
    • Brugada syndrome
    • Catecholaminergic polymorphic ventricular tachycardia
    • Familial hypercholesterolemia
    • Familial hypertriglyceridemia
    • Familial combined hyperlipidemia
    • Familial dysbetalipoproteinemia
    • Negative autopsy in sudden death
    • Aortic aneurysm
    • Marfan syndrome, Noonan syndrome
    • Loeys-Dietz syndrome, Ehlers-Danlos syndrome
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Key benefits of detecting inherited cardiovascular disease

Genetic-genomic studies for family members and medical surveillance for those who need it.

Accurate diagnosis and assessment of the risk of sudden death, aneurysms, and aortic dissections for prevention and targeted treatment.

Family genetic counseling.

Treatment for patients with cardiomyopathy due to a specific cardiac genotype or underlying conditions.

Identification of causes of sudden unexplained death.

Genetic and genomic tests for inherited cardiovascular disease have a sensitivity >99%

How can I request a molecular panel?