| Muscular Dystrophy Limb-Girdle type 2A (LGMD2A) | Detection of deletions and duplications in the CAPN3 gene by MLPA | 28 days | LV4075 | +Info |
| Hypercholesterolemia, familial | Detection of deletions and/or duplications in LDLR gene by MLPA | 28 days | LV2464 | +Info |
| Cardiomyopathy, dilated | Detection of deletions and/or duplications in LMNA gene by MLPA | 28 days | LV3919 | +Info |
| Ehlers-Danlos Syndrome, type III | Detection of deletions and/or duplications in TNXB gene by MLPA | 28 days | LV1161 | +Info |
| Familial Cardiomyopathy | Detection of large delections orduplications in gene the GLA, MYBPC3 and TNNT2 genes by MLPA | 35 days | LV3611 | +Info |
| Short QT Syndrome | Detection of large deletions and duplications in the KCNQ1, KCNH2 and KCNJ2 by MLPA | 28 days | LV1303 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Detection of large deletions and/or duplications in GLA gene by MLPA | 28 days | LV1181 | +Info |
| Brugada syndrome | Detection of large deletions and/or duplications in SCN5A gene by MLPA | 28 days | LV1302 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | Detection of large deletions and/or duplications in the COL3A1 gene by MLPA | 28 days | LV0889 | +Info |
| Long QT syndrome | Detection of large deletions and/or duplications in the KCNQ1, KCNE1,KCNH2, KCNE2, KCNJ2 and SCN5A genes by MLPA | 42 days | LV1301 | +Info |
| Atrial Fibrillation Familial | Detection of large deletions and/or duplications in the KCNQ1, KCNH2, KCNE2 genes by MLPA | 28 days | LV1304 | +Info |
| Marfan syndrome | Detection of large deletions and/orduplications in the FBN1 gene by MLPA | 28 days | LV1575 | +Info |
| Supravalvular Aortic Stenosis | Next Generation Sequencing and Sanger Sequencing of the ELN gene | 42 days | LV1494 | +Info |
| Brugada syndrome | Next Generation Sequencing and Sanger Sequencing of the SCN5A gene | 42 days | LV1581 | +Info |
| Long QT syndrome | Next Generation Sequencing and Sanger Sequencing of the SCN5A gene | 42 days | LV1581 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the ACTN2 gene | 28 days | LV1430 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the ACTN2 gene | 28 days | LV1430 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the MYBPC3 gene | 28 days | LV1437 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the MYBPC3 gene | 28 days | LV1437 | +Info |
| Aortic valve disease | Next Generation Sequencing and Sanger Sequencing of the NOTCH1 gene | 42 days | LV1086 | +Info |
| Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficie | Next Generation Sequencing and Sanger Sequencing of the TNXB gene | 42 days | LV0925 | +Info |
| Ehlers-Danlos Syndrome, type III | Next Generation Sequencing and Sanger Sequencing of the TNXB gene | 42 days | LV0925 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the VCL gene | 28 days | LV1443 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the VCL gene | 28 days | LV1443 | +Info |
| Nonobstructive Hypertrophic Cardiomyopathy | Next Generation Sequencing of 13 gene panel: ACTC1, GLA, LAMP2, LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1. | 42 days | LV1516 | +Info |
| Nonobstructive Hypertrophic Cardiomyopathy | Next Generation Sequencing of 13 gene panel:ACTC1, GLA, LAMP2,LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, and detections of deletions and/or duplications in the GLA, MYBPC3 and TNNT2 genes by MLPA | 42 days | LV1517 | +Info |
| Jervell-Lange-Nielsen syndrome | Next Generation Sequencing of 2 gene panel: KCNE1, KCNQ1. | 42 days | LV1545 | +Info |
| Coronary Arteries Disease | Next Generation Sequencing of 2 gene panel: LRP6, MEF2A | 42 days | LV1288 | +Info |
| Long QT related to Andersen, Timothy & Jervell and Lange-Nielsen disea | Next Generation Sequencing of 3 gene panel: KCNJ2, CACNA1C, KCNQ1 | 42 days | LV1528 | +Info |
| Bicuspid aortic valve and Arterial tortuosity | Next Generation Sequencing of 4 gene paneL: EFEMP2, FBLN5, NOTCH1, SLC2A10 | 42 days | LV1481 | +Info |
| Cardiomyopathy with cardiac conduction disease related to Myofibrill | Next Generation Sequencing of 6 gene panel: BAG3, CRYAB, DES, FLNC, LDB3, MYOT. | 42 days | LV1508 | +Info |
| Marfan syndrome | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Brugada syndrome 3 | NGS and Sanger Sequencing in the CACNA1C gene | 42 days | LV1742 | +Info |
| Timothy syndrome | NGS and Sanger Sequencing in the CACNA1C gene | 42 days | LV1742 | +Info |
| Atrial fibrillation, familial, 12 | NGS and Sanger sequencing of ABCC9 gene | 42 days | LV2518 | +Info |
| Duchenne-Becker Muscular Dystrophy | NGS and Sanger sequencing of DMD gene | 42 days | LV2484 | +Info |
| Tangier disease | NGS and Sanger Sequencing of the ABCA1 gene | 42 days | LV2435 | +Info |
| Glycogen storage disease III | NGS and Sanger Sequencing of the AGL gene | 42 days | LV2477 | +Info |
| Long QT syndrome-11 | NGS and Sanger Sequencing of the AKAP9 gene | 42 days | LV1716 | +Info |
| Cardiac arrhythmia, ankyrin-B-related | NGS and Sanger Sequencing of the ANK2 gene | 42 days | LV1720 | +Info |
| Long QT syndrome-4 | NGS and Sanger Sequencing of the ANK2 gene | 42 days | LV1720 | +Info |
| Hypercholesterolemia, familial | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
| Ehlers-Danlos syndrome, Type VIIB | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Ehlers-Danlos Syndrome, type III | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Porencephaly 1 | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +Info |
| Arterial calcification, generalized, of infancy, 1 | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Hypophosphatemic rickets, autosomal recessive, 2 | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Ossification of posterior longitudinal ligament of spine | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Cardiomyopathy, dilated, 1J | NGS and Sanger Sequencing of the EYA4 gene | 42 days | LV1845 | +Info |
| Deafness, autosomal dominant 10 | NGS and Sanger Sequencing of the EYA4 gene | 42 days | LV1845 | +Info |
| Aortic aneurysm, familial thoracic 4 | NGS and Sanger Sequencing of the MYH11 gene | 42 days | LV1948 | +Info |
| Atrial septal defect 3 | NGS and Sanger Sequencing of the MYH6 gene | 42 days | LV1952 | +Info |
| Cardiomyopathy, dilated, 1EE | NGS and Sanger Sequencing of the MYH6 gene | 42 days | LV1952 | +Info |
| Carney complex variant | NGS and Sanger Sequencing of the MYH8 gene | 42 days | LV1958 | +Info |
| Aortic aneurysm, familial thoracic 7 | NGS and Sanger Sequencing of the MYLK gene | 42 days | LV1965 | +Info |
| Cardiomyopathy, dilated | NGS and Sanger Sequencing of the NEBL gene | 42 days | LV1977 | +Info |
| Progressive familial heart block, type IB | NGS and Sanger Sequencing of the TRPM4 gene | 42 days | LV2071 | +Info |
| Meckel, Syndrome | NGS of 11 gene panel: B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67. | 42 days | LV2982 | +Info |
| Hypercholesterolemia, familial | NGS of 8 gene panel: ABCG5, ABCG8, APOB,APOE, CYP7A1, LDLR, LDLRAP1, PCSK9. | 42 days | LV3368 | +Info |
| Hypercholesterolemia, familial | NGS of a 3-gene panel: APOB, LDLR and PCSK9 | 42 days | LV3931 | +Info |
| Cardiomyopathy, Familial | NGS of a 101-gene panel: A2ML1, ABCC9, ACTC1, ACTN2, AGL, ANK2, ANKRD1, BAG3, BRAF, CALR3, CAV3, CBL, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FXN, GAA, GATAD1, GBE1, GLA, GYG1, GYS1, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEBL, NEXN, NRAS, OBSCN, PDLIM3, PKP2, PKP4, PLEC, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RIT1, RRAS, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SOS1, SOS2, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, XK | 56 days | LV3944 | +Info |
| Wolff-Parkinson White, syndrome | NGS of a 2-gene panel: GAA, PRKAG2 | 42 days | LV3943 | +Info |
| Costello Syndrome | NGS of a 2-gene panel: HRAS, NRAS | 42 days | LV3952 | +Info |
| RASopathies syndromes | NGS of a 20-gene panel: A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 | 42 days | LV3949 | +Info |
| Left ventricular Non-Compaction | NGS of a 20-gene panel: ACTC1, ACTN2, DMD, DTNA, FHL1, GLA, HCN4, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYPN, PRDM16, RYR2, TAZ, TNNT2, TPM1 | 42 days | LV3948 | +Info |
| Sudden Death | NGS of a 200-gene panel: ABCC6, ABCC9, ACTA2, ACTC1, ACTN2, ACVRL1, AGL, AKAP9, ALG10, ANK2, ANKRD1, BAG3, BMPR2, BRAF, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CBL, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EFEMP2, EIF2AK4, ELN, EMD, ENG, ENPP1, EYA4, FBLN5, FBN1, FBN2, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXF1, FXN, GAA, GATA4, GATA6, GATAD1, GBE1, GDF2, GJA1, GJA5, GLA, GLMN, GNAI2, GPD1L, GUCY1A3, GYG1, GYS1, HCN4, HFE, HRAS, HTRA1, ILK, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KRAS, KRIT1, LAMA4, LAMP2, LDB3, LMNA, LOX, LRP6, LZTR1, MAP2K1, MAP2K2, MEF2A, MFAP5, MIB1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOT, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NKX2-6, NOTCH1, NOTCH3, NPPA, NRAS, NUP155, OBSCN, PDLIM3, PKP2, PKP4, PLN, PLOD1, PRDM16, PRKAG2, PRKG1, PROC, PROS1, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RNF213, RRAS, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SLC2A10, SLMAP, SMAD3, SMAD4, SMAD6, SNTA1, SOS1, SOS2, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TPM1, TRDN, TRPM4, TTN, TTR, VCL, XK, ZNF469 | 56 days | LV3969 | +Info |
| Cardiac conduction diseases | NGS of a 21-gene panel: ACTC1, CACNA1D, DES, EMD, GAA, GJA5, GLA, HCN4, HFE, KCNJ2, KCNK17, LAMP2, LMNA, NKX2-5, PRKAG2, SCN1B, SCN5A, TBX5, TNNI3K, TRPM4, TTR | 42 days | LV3942 | +Info |
| Atrial Fibrillation Familial | NGS of a 29-gene panel: ABCC9, ACTC1, EMD, GATA4, GATA6, GJA1, GJA5, HCN4, KCNA5, KCND3, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNQ1, LMNA, NKX2-6, NPPA, NUP155, RANGRF, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5 | 42 days | LV3937 | +Info |
| Leopard syndrome | NGS of a 3-gene panel: BRAF, PTPN11, RAF1 | 42 days | LV3953 | +Info |
| Loeys-Dietz Syndrome | NGS of a 5-gene panel: SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 42 days | LV3970 | +Info |
| Cardiomyopathy, dilated | NGS of a 50-gene panel: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EMD, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, GAA, GATAD1, GBE1, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEBL, NEXN, PLN, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, SYNE1, SYNE2, TAZ, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, XK | 42 days | LV3946 | +Info |
| Familial Cardiomyopathy | NGS of a 50-gene panel: ACTC1, ACTN2, AGL, ANK2, ANKRD1, BRAF, CALR3, CAV3, CSRP3, DES, FHOD3, FLNC, FXN, GLA, GYG1, GYS1, HRAS, JPH2, KRAS, LAMP2, LDB3, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NRAS, OBSCN, PDLIM3, PLN, PRKAG2, PTPN11, SCN5A, SHOC2, SLC25A4, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | 42 days | LV3945 | +Info |
| Congenital Heart Diseases | NGS of a 51-gene panel: A2ML1, ACTC1, ACVR2B, BRAF, CBL, CFC1, CHD7, CITED2, CRELD1, EHMT1, EVC, FOXC1, FOXF1, G6PC3, GATA4, GATA6, GDF1, GJA1, HAND2, HRAS, JAG1, KRAS, LZTR1, MAP2K1, MAP2K2, MMP21, MYH6, NKX2-3, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NRAS, PTPN11, RAF1, RBM10, RIT1, RPSA, RRAS, SHOC2, SOS1, SOS2, TAB2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZFPM2, ZIC3 | 42 days | LV3955 | +Info |
| Short QT Syndrome | NGS of a 8-gene panel: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1 | 42 days | LV3940 | +Info |
| Familial Arrhythmia. | NGS of a 85-gene panel:ABCC9, ACTC1, AKAP9, ALG10, ANK2, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DPP6, DSC2, DSG2, DSP, EMD, GAA, GATA4, GATA6, GJA1, GJA5, GLA, GNAI2, GPD1L, GYG1, HCN4, HFE, HRAS, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, NKX2-6, NPPA, NRAS, NUP155, PKP2, PKP4, PLN, PRKAG2, PTPN11, RAF1, RANGRF, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TBX5, TGFB3, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN, TTR, XK | 42 days | LV3936 | +Info |
| Long QT syndrome | NGS of a a 19-gene panel: AKAP9, ALG10, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, RYR2, SCN4B, SCN5A, SNTA1, TRDN | 42 days | LV3939 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Seq.of the GLA gene & Detection of large deletions and/or duplications in the GLA gene by MLPA | 42 days | LV1495 | +Info |
| Pulmonary hypertension, familial primary, 1 | Sanger Sequencing of the BMPR2 gene | 42 days | LV0157 | +Info |
| Homocystinuria, B6-responsive and nonresponsive types | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Thrombosis, hyperhomocysteinemic | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Sequencing of the GLA gene | 42 days | LV1180 | +Info |
| Costello Syndrome | Sanger Sequencing of the HRAS gene | Consult | LV1097 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLR gene | 42 days | LV0219 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLRAP1 gene | Consult | LV2303 | +Info |
| Familial Cardiomyopathy | Sanger Sequencing of the PRKAG2 gene | 56 days | LV1206 | +Info |
| Carney complex variant | Sanger sequencing of the PRKAR1A gene | 35 days | LV3290 | +Info |
| Pseudohypoaldosteronism Type 1B, Autosomal Recessive | Sanger sequencing of the SCNN1A gene | 56 days | LV1424 | +Info |
| Loeys-Dietz Syndrome | Sanger Sequencing of the TGFBR2 gene | 42 days | LV0283 | +Info |
| Familial Amyloidosis | Sanger Sequencing of the TTR gene | 32 days | LV1471 | +Info |
| Loeys-Dietz Syndrome | TGFBR1 and TGFBR2 large deletions and duplicationsdetection by MLPA | 35 days | LV3373 | +Info |
