Diagnostics & Bioanalysis

Genetic Analysis (NGS) 1

Clinical Exome Panel OUTLINE Clinical Exome Panel COMMENT >4,500 genes of the human genome, which are associated with genetic diseases / (sensitivity > 99%, accuracy > 99%, repeatability >99%) with average coverage >50x in >96% of targets and unsurpassed uniformity in region coverage ( >98%)Autism Spectrum Disorders / Cardiomyopathies, Ciliopathies, Congenital Glycosylation Disorders, Congenital Myasthenias, Epilepsy Syndromes, Eye Disorders, Glycogen Storage Disorders, Hearing Loss, Hereditary Cancer, Hereditary Relapsing Fever Syndromes, Inflammatory Diseases of the intestineLysosomal syndromes, Diabetes of the Juvenile (MODY), Multiple dysplasias of the pineal gland, Neuromuscular disorders, Noonan syndrome and related disorders, Peroxidase biogenesis disorders, Unexplained infertility, Zellweger syndrome spectrum, Skeletal malformations, Sex-linked mental retardation, X-linked intellectual disability

Neurological Disorders 2

Ataxia (134 genes) OUTLINE Ataxia (134 genes) METHODOLOGY NGS COMMENT ABCB7, ABHD12, ACO2, AFG3L2*, AHI1, ALDH5A1, ANO10, APTX, ARL6, ARL13B, ATCAY, ATM, ATP1A3, ATP8A2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEAN1, C5ORF42, CA8, CACNA1A, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP41, CEP290*, CLCN2, CLN5, CP*, CSTB, CYP2U1, CYP27A1, DNMT1, ELOVL4, FA2H, FGF14, FLVCR1, FMR1, FXN, GFAP, GOSR2*, GRID2, GRM1, GSS, HARS2, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKKS, MKS1, MME, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOL3, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKD, PNKP, PNPLA6, POLG, PPP2R2B, PRKCG, PRRT2, RPGRIP1L, RUBCN, SACS, SERAC1, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SLC20A2, SLC52A2, SPG7, SPTBN2, SYNE1, SYT14*, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TPP1, TRIM32, TTBK2, TTC8, TTC19, TTPA, VLDLR, WDPCP, WDR81, WFS1, WWOX, ZFYVE26, ZNF423 *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Neurological Disorders 4

Complete Epilepsy control (236 genes) OUTLINE Complete Epilepsy control (236 genes) METHODOLOGY NGS COMMENT ABAT, ABCD1*, ADAR, ADSL, AFG3L2*, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, AMACR, AMT, AP4B1, AP4E1, AP4M1, AP4S1*, ARG1, ARHGEF9, ARSA, ARX, ASAH1, ASNS*, ASPA, ATP1A3, ATP13A2, ATRX, BRAT1, BTD, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CC2D1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL4A1, COX6B1, COX15, CPT2, CSF1R, CSTB, CTC1, CTSD, CUL4B, CYP27A1, D2HGDH, DARS2, DCX, DDC, DNAJC5, DNM1*, DNM1L, DOCK7, DPYD, DPYS, EARS2, ECM1, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FH, FLNA, FOLR1, FOXG1, FOXRED1, GABRA1, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GFM1, GJC2, GLB1, GLDC, GLRB, GNB1, GNE, GOSR2*, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, HACE1, HCN1, HEPACAM, HIBCH, HNRNPU, HSD17B10, HTRA1, HTT, IQSEC2, KCNA1, KCNQ2, KCNQ3, KCNT1, KCTD7*, KDM5C, KIF1A, L2HGDH, LGI1, LMNB1, LRPPRC, MAGI2, MARS2, MBD5, MECP2, MED12, MEF2C, MFSD8, MLC1, MOCS1*, MTFMT, MTHFR, MTOR, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NFU1, NHLRC1, NOTCH3, NRXN1, NUBPL, OFD1, OPHN1, PCDH19, PGK1, PHF6, PIGA*, PIGN*, PIGO, PIGV, PLCB1, PLP1, PNKP, PNPO, POLG, POLR3A, POLR3B, PPT1*, PRICKLE1, PRODH*, PRRT2, PSAP, PTS, QDPR, RAB39B, RARS, RELN, RMND1*, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SLC2A1, SLC6A1, SLC6A8*, SLC9A6, SLC19A3, SLC25A1, SLC25A15*, SLC25A22, SLC46A1, SMS, SNAP25, SOX10, SPTAN1, ST3GAL5, STXBP1, SUMF1, SUOX, SYN1, TAF1, TBC1D24, TBCE, TBL1XR1*, TCF4, TPP1, TREX1, TSC1, TSC2, TTC19, UBE2A, UBE3A*, UNC80, VPS13A, WDR45, WWOX, YY1, ZEB2*, ZFYVE26 *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Neurological Disorders 5

Brain arteriovenous malformation (AVM) OUTLINE Brain arteriovenous malformation (AVM) METHODOLOGY NGS COMMENT AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATP7A, BAG3, BSCL2, CCT5, COX10*, CTDP1, DCTN1, DHTKD1, DNM2, DNMT1, DST, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, FXN*, GAN, GARS, GDAP1, GJB1, GNE, HADHB, HRAS*, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MPZ, MTMR2, MYOT, NDRG1, NEFH*, NEFL, NGF, NTRK1, PLEKHG5, PMP22, POLG, PRPS1*, PRX, RAB7A, REEP1, SACS, SBF2, SCN9A, SCN11A, SETX, SH3TC2, SLC12A6, SMAD3, SPG11, SPTLC1*, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26 *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Neurological Disorders 6

Charcot-Marie-Tooth (83 genes) OUTLINE Charcot-Marie-Tooth (83 genes) METHODOLOGY NGS COMMENT AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATP7A, BAG3, BSCL2, CCT5, COX10*, CTDP1, DCTN1, DHTKD1, DNM2, DNMT1, DST, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, FXN*, GAN, GARS, GDAP1, GJB1, GNE, HADHB, HRAS*, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MPZ, MTMR2, MYOT, NDRG1, NEFH*, NEFL, NGF, NTRK1, PLEKHG5, PMP22, POLG, PRPS1*, PRX, RAB7A, REEP1, SACS, SBF2, SCN9A, SCN11A, SETX, SH3TC2, SLC12A6, SMAD3, SPG11, SPTLC1*, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26 *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Neurological Disorders 14

Epileptic Encephalopathy (101 genes) OUTLINE Epileptic Encephalopathy (101 genes) METHODOLOGY NGS COMMENT ABAT, ADAR, ADSL, ALDH7A1, ALG13, AMT, ARHGEF9, ARX, ASNS*, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CLCN4, CNTNAP2, COX6B1, CPT2, DCX, DNM1*, DNM1L, DOCK7, ETHE1, FARS2, FLNA, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GLDC, GPHN, GRIN1, GRIN2A, GRIN2B, HCN1, HEPACAM, HIBCH, HNRNPU, HTT, KCNQ2, KCNQ3, KCNT1, KIF1A, LRPPRC, MBD5, MECP2, MEF2C, MOCS1*, MTFMT, MTHFR, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NRXN1, NUBPL, PCDH19, PIGA*, PLCB1, PNKP, PNPO, POLG, RMND1*, RNASEH2A, RNASEH2B, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SDHAF1, SERAC1, SLC2A1, SLC6A8*, SLC9A6, SLC19A3, SLC25A1, SLC25A22, SNAP25, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, TBC1D24, TBCE, TCF4, TREX1, TSC1, TSC2, TTC19, UBE3A*, UNC80, WDR45, WWOX, ZEB2* *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Neurological Disorders 17

Leukodystrophies and genetic leukoencephalopathies (64 genes) OUTLINE Leukodystrophies and genetic leukoencephalopathies (64 genes) METHODOLOGY NGS COMMENT ABCD1*, ADAR, AIFM1, AIMP1, ALDH3A2, AP4B1, AP4E1, AP4M1, AP4S1*, ARSA, ASPA, CLCN2, COL4A1, COX6B1, COX15, CSF1R, CTC1, CYP27A1, D2HGDH, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, FOLR1, FOXRED1, GALC, GFAP, GFM1, GJC2, HEPACAM, HIBCH, HTRA1, L2HGDH, LMNB1, MARS2, MLC1, MTFMT, NDUFAF5, NFU1, NOTCH3, NUBPL, PLP1, POLR3A, POLR3B, PSAP, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCO1, SDHAF1, SERAC1, SOX10, SUMF1, TREX1, TTC19, ZFYVE26 *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Neurological Disorders 34

X linked mental retardation (97 genes) OUTLINE X linked mental retardation (97 genes) METHODOLOGY NGS COMMENT ABCD1*, ACSL4, AFF2, AP1S2*, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLCN4, CUL4B, DCX, DDX3X, DKC1, DLG3, ELK1*, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK*, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS*, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1*, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5*, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1*, PTCHD1, RAB39B, RBM10, RPL10, RPS6KA3, SHROOM4, SLC6A8*, SLC9A6, SLC16A2, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, TIMM8A*, TSPAN7, UBE2A, UPF3B, USP9X, ZCCHC12, ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711 *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Heart Diseases 1

Extended Cardio Solution OUTLINE Extended Cardio Solution METHODOLOGY NGS COMMENT AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CASQ2, CAV3, CTNNA3, DPP6, DSC2, EMD, FGF12, FHL1, GJC1, GPD1L, JUP, KCNA5, KCNAB2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, MOG1, NKX2-5, NOS1AP, NUP155, PKP2, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SLC8A1, SLMAP, SNTA1, TBX5, TGFB3, TMEM43, TRDN, TRPM4, TRPM7, ATP2A2, CACNA1D, CALM3, CALR3, DES, DSG2, DSP, GJA5, HCN4, HEY2, NPPA, PDLIM3, PLN, SCN5A, STRN, TTN, ABCC9, ACTA1, ACTC1, ACTN2, ALPK3, ANKRD1, APOA1, BAG3, CHRM2, CRAYB, CSRP3, CTF1, DMD, DOLK, DTNA, EYA4, FHL2, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GJA1, GLA, HFE, JPH2, LAMA4, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, SCO2, SGCD, SURF1, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Heart Diseases 7

Cardiomyopathy (131 genes) OUTLINE Cardiomyopathy (131 genes) METHODOLOGY NGS COMMENT AARS2, ABCC6*, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK*, AGL, ALMS1*, ANO5, APOA1, BAG3, BRAF*, CALR3, CAPN3, CASQ2, CBL, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, DYSF, ELAC2, EMD, ETFA, ETFB, ETFDH, FHL1*, FKRP, FKTN, FLNC*, FOXRED1, FXN*, GAA, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GUSB*, HADHA, HAND1, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KRAS*, LAMA2, LAMP2, LARGE, LDB3, LMNA, MAP2K1, MAP2K2, MLYCD, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN, NEXN, NF1*, NRAS, PCCA, PCCB, PKP2*, PLEC, PNPLA2, PRDM16, PRKAG2*, PTPN11, RAF1, RBM20, RMND1*, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA*, SELENON, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SLC25A20, SMCHD1, SOS1, SPRED1, TAB2, TAZ, TBX5, TBX20*, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM32, TSFM, TTN*, TTR, VCL, VCP, VPS13A, XK *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Heart Diseases 9

Cardiovascular examination (156 genes) OUTLINE Cardiovascular examination (156 genes) METHODOLOGY NGS COMMENT AARS2, ABCC6*, ABCC9, ACADVL, ACTA1, ACTA2, ACTN2, AGK*, AGL, AKAP9, ALMS1*, ANK2, ANO5, APOA1, BAG3, BRAF*, CACNA1C*, CACNB2, CALM1*, CALM3, CALR3, CAPN3, CASQ2, CAV3, CBL, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, DYSF, ELAC2, EMD, ENPP1, ETFA, ETFB, ETFDH, FHL1*, FKRP, FKTN, FLNC*, FOXRED1, FXN*, GAA, GATA5, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GUSB*, HADHA, HAND1, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS*, LAMA2, LAMP2, LARGE, LDB3, LMNA, MAP2K1, MAP2K2, MLYCD, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN, NEXN, NF1*, NKX2-5, NOS1AP, NRAS, NUP155, PCCA, PCCB, PKP2*, PLEC, PNPLA2, POMT1, PRDM16, PRKAG2*, PTPN11, RAF1, RBM20, RMND1*, RYR2, SALL4, SCN1B, SCN3B, SCN5A, SCN10A, SCNN1B, SCNN1G, SCO2, SDHA*, SELENON, , SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SLC25A20, SMCHD1, SOS1, SPRED1, TAB2, TAZ, TBX5, TBX20*, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM32, TRPM4, TSFM, TTN*, TTR, VCL, VCP, VPS13A, XK *Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.

Diagnostics & Bioanalysis

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