Epilepsija i poremećaji razvoja mozga

Redovno ažuriranje

Izbor gena se redovno prilagođava aktuelnim naučnim saznanjima.

Fleksibilnost

Uz ExomeXtra® moguće je kombinovati genske setove koji pokrivaju različite bolesti.

Detaljan medicinski nalaz

Uključuje ACMG kriterije korištene za klasifikaciju varijanti.

Najviši kvalitet

Svi koraci analize izvode se u vlastitoj laboratoriji.

Brz rok izrade

Tipično 3–4 sedmice nakon prijema uzorka.

Sigurnost

Najviši standardi povjerljivosti i kvaliteta.

Pouzdanost

Pouzdana podrška kroz sve korake procesa.

Razumljivost

Jasno i pregledno pripremljen medicinski nalaz.

Moguće je naručiti jedan ili više predefiniranih genskih setova. Pored kompletne analize gena naručenog seta, analizu proširujemo dodatnim genima za diferencijalnu dijagnozu. Za primarno naručeni set prijavljujemo varijante nepoznatog značaja (ACMG klasa 3) te patogene i vjerovatno patogene varijante (ACMG klase 4 i 5). Za gene uključene zbog diferencijalne dijagnoze izvještavanje je ograničeno na patogene i vjerovatno patogene varijante (klase 4 i 5) koje mogu biti povezane s indikacijom pacijenta.

Budući da je panel zasnovan na ExomeXtra® obogaćivanju, bez dodatnog sekvenciranja mogu se naručiti i fenotipski relevantni genski setovi iz drugih panela ili pojedinačni geni; na zahtjev je moguće sastaviti i individualni panel. Uz primarnu dijagnostičku narudžbu moguće je zatražiti i HLA tipizaciju, analizu ACMG gena te farmakogenetsko profiliranje.

Familijarna i idiopatska epilepsija (EPI01, 36 gena)

ATP6V0C, CACNA1A, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GABRA1, GABRB3, GABRG2, GNAO1, GRIN2A, HCN1, HCN2, KCNA1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTOR, NPRL2, NPRL3, PCDH19, PRRT2, RELN, RORB, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SLC2A1, SLC32A1, STX1B, TBC1D24, USP25

Epileptička encefalopatija (EPI02, 156 gena)

AARS1, ABAT, ACTL6B, ADAM22, ALDH7A1, ALG13, AMT, AP3B2, ARHGEF9, ARV1, ARX, ATP1A2, ATP1A3, ATP6V0A1, ATP6V0C, ATP6V1A, CACNA1A, CACNA1B, CACNA1E, CAD, CDK19, CDKL5, CELF2, CHD2, CLCN4, CNPY3, CNTNAP2, CPLX1, CSNK2B, CUX2, CYFIP2, DALRD3, DENND5A, DEPDC5, DMXL2, DNM1, DOCK7, EEF1A2, FBXO28, FGF12, FGF13, FOLR1, FOXG1, FRRS1L, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GAMT, GLDC, GLS, GLUL, GNAO1, GOT2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, IQSEC2, ITPA, KCNA2, KCNA3, KCNB1, KCNC2, KCNH5, KCNQ2, KCNQ5, KCNT1, KCNT2, LGI1, MAST3, MBD5, MDH1, MDH2, MECP2, MEF2C, MOCS1, MOCS2, NAPB, NCDN, NECAP1, NEUROD2, NEXMIF, NTRK2, NUS1, PACS2, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PIGS, PLCB1, PLPBP, PNKP, PNPO, POLG, PPP3CA, PTPN23, RHOBTB2, RNF13, ROGDI, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SETD1B, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC32A1, SLC35A2, SLC38A3, SLC6A1, SLC6A8, SMC1A, SNAP25, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SV2A, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBL1XR1, TCF4, TMEM63B, TRAK1, TSC1, TSC2, UBA5, UBE3A, UFSP2, UGDH, UGP2, WWOX, YWHAG, ZEB2

Progresivna mioklona epilepsija (EPI05, 17 gena)

AFG3L2, ASAH1, CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NEU1, NHLRC1, PRDM8, PRICKLE1, SCARB2, SEMA6B, SERPINI1, SLC7A6OS

Napomena: analiza CSTB repeticija je opcionalna. Najčešća patogena promjena u genu CSTB je ekspanzija dodekamerne repeticije u promotorskoj regiji (povezana s Unverricht-Lundborgovom bolešću, sporo progresivnom mioklonom epilepsijom).

Neuronalna ceroidna lipofuscinoza (EPI06)

Ovaj set naručuje se u okviru panela za neurodegenerativne bolesti, genski set NDD21.

Migrena (EPI14, 8 gena)

ATP1A2, ATP1A3, CACNA1A, NOTCH3, PRRT2, SCN1A, SLC1A3, SLC2A1

Mikrocefalija (BRN01, 164 gena)

AARS1, ADARB1, AFG2B, ANKLE2, ARPC4, ASPM, ATP1A2, ATP6V0A1, ATP6V0C, ATR, ATRX, BLM, BPTF, BUB1, BUB1B, CAMSAP1, CASK, CCDC88A, CDK5RAP2, CDT1, CENPF, CEP135, CEP152, CEP295, CEP57, CEP63, CHKA, CHMP1A, CIT, CKAP2L, COASY, CPAP, CREBBP, CTNNB1, CTU2, DDX11, DHCR7, DIAPH1, DNA2, DNMT3A, DOHH, DONSON, DYNC1I2, DYRK1A, EFTUD2, EIF2S3, EIF5A, ERCC6, ERCC8, FOXG1, FRA10AC1, GINS3, GMNN, GPT2, GRM7, H4C3, HDAC8, HHAT, IER3IP1, IGF1, IGF1R, INTS11, KIF11, KIF14, KIFBP, KMT2B, KNL1, LAGE3, LARP7, LIG4, LMNB1, LMNB2, MCPH1, MECP2, METTL5, MFSD2A, MINPP1, MORC2, NAPB, NARS1, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NHEJ1, NIPBL, NSD2, NUP107, NUP188, ORC1, ORC4, ORC6, OSGEP, PCDH12, PCNT, PDCD6IP, PLK4, PNKP, POC1A, PPFIBP1, PPIL1, PPP1R15B, PQBP1, PRIM1, PRUNE1, PTPN23, PUF60, PUS7, RAD21, RAD50, RARS2, RBBP8, RNU4-2, RNU4ATAC, RPL10, RRP7A, RTTN, SARS1, SASS6, SLC1A4, SLC25A19, SLC38A3, SLC4A10, SLC9A6, SLF2, SMC1A, SMC3, SMC5, SMG8, STAMBP, STIL, SVBP, TMX2, TOP3A, TP53RK, TRAIP, TRAPPC10, TRAPPC12, TRAPPC4, TRAPPC6B, TRAPPC9, TRIO, TRMT10A, TSEN15, TSEN54, TTC5, TTI1, TUBGCP2, TUBGCP4, TUBGCP6, UBA5, UFC1, UFM1, VRK1, WDR11, WDR4, WDR62, WDR73, WLS, XRCC4, YIPF5, ZEB2, ZNF335

Poremećaji neuronske migracije (BRN02, 81 gen)

ACTB, ACTG1, ADGRG1, AKT3, APC2, ARF1, ARFGEF2, ARX, B3GALNT2, B4GAT1, CAMSAP1, CASP2, CCND2, CDK5, CEP85L, COL3A1, COL4A1, COL4A2, CRADD, CRPPA, CTNNA2, DAG1, DCX, DYNC1H1, ERMARD, FAT4, FKRP, FKTN, FLNA, GMPPB, GRIN1, GRIN2B, KATNB1, KIF26A, KIF2A, KIF5C, KIFBP, LAMB1, LAMC3, LARGE1, MACF1, MAP1B, MAST1, NDE1, NEDD4L, OCLN, PAFAH1B1, PI4KA, PIDD1, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRUNE1, RAB18, RAB3GAP1, RAB3GAP2, RAC3, RELN, RTTN, RXYLT1, SNAP29, STAT2, TBC1D20, TMTC3, TSC1, TSC2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP2, VLDLR, WDR62, WDR81

Holoprozencefalija (BRN03, 21 gen)

CDON, CENPF, CNOT1, DHCR7, DISP1, DLL1, FGF8, FGFR1, GLI2, KMT2D, PLCH1, PPP1R12A, PTCH1, RAD21, SHH, SIX3, SMC1A, STAG2, STIL, TGIF1, ZIC2

Makrocefalija (BRN04, 70 gena)

AKT1, AKT2, AKT3, APC2, ASPA, ASXL2, BRWD3, CCDC88C, CCND2, CDKN1C, CHD3, CHD4, CHD8, CRADD, DIS3L2, DNMT3A, EED, EXT2, EZH2, GCDH, GFAP, GLI3, GPC3, GPRC5B, H1-4, HEPACAM, HERC1, HRAS, HUWE1, KIF7, KPTN, L1CAM, MAX, MITF, MLC1, MPDZ, MTOR, MYCN, NF1, NFIA, NFIB, NFIX, NONO, NSD1, PAK1, PIGA, PIK3CA, PIK3R2, PPP1CB, PPP2CA, PPP2R1A, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RIN2, RNF125, SETD2, SOS1, STRADA, SUFU, SUZ12, TBC1D7, TRIM71, TRIO, UPF3B, WDFY3, ZBTB20, ZBTB7A

Leukodistrofija / leukoencefalopatija (BRN05, 100 gena)

AARS1, AARS2, ABCD1, ABHD16A, ACBD5, ACOX1, ADAR, AIFM1, AIMP1, AIMP2, ALDH3A2, AP4B1, ARSA, ASPA, BCAP31, CIC, CLCN2, CLDN11, CNTNAP1, COL4A1, CSF1R, CYP27A1, CYP7B1, DARS1, DARS2, DEGS1, EARS2, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EPRS1, FA2H, GALC, GBE1, GFAP, GJC2, GPRC5B, HEPACAM, HIKESHI, HMBS, HPDL, HSD17B4, HSPD1, HTRA1, HYCC1, IFIH1, KARS1, L2HGDH, LMNB1, LSM11, MLC1, NAXD, NAXE, NKX6-2, NOTCH3, OCLN, PI4KA, PLAA, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, POLR3K, PSAP, PYCR2, RAB11B, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RNF220, RNU7-1, SAMHD1, SCP2, SLC16A2, SLC17A5, SLC25A12, SLC35B2, SNORD118, SOX10, SPG11, SUMF1, TMEM106B, TMEM163, TMEM63A, TREM2, TREX1, TUBB4A, TYROBP, UFM1, USP18, VPS11, ZFYVE26

Aicardi-Goutières sindrom (BRN06)

Uključen je u genski set AID07 u okviru panela za imunološke bolesti.

Joubertov sindrom (BRN07, 44 gena)

AHI1, ARL13B, ARL3, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1, CSPP1, FAM149B1, HYLS1, IFT172, IFT74, INPP5E, KATNIP, KIAA0586, KIAA0753, KIF7, MKS1, NPHP1, NPHP4, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TTC21B, ZNF423

RASopatije (uklj. Noonanov sindrom) (BRN10, 22 gena)

BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAPK1, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2

Kabuki sindrom (BRN11, 3 gena)

CHD7, KDM6A, KMT2D

Coffin-Siris sindrom (BRN12, 14 gena)

ARID1A, ARID1B, ARID2, BICRA, DPF2, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SOX11, SOX4

Cornelia de Lange sindrom (BRN13, 7 gena)

ANKRD11, BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3

Hiperekpleksija (BRN15, 4 gena)

ATAD1, GLRA1, GLRB, SLC6A5

AARS1, AARS2, ABAT, ABCD1, ABHD16A, ACBD5, ACOX1, ACTB, ACTG1, ACTL6B, ADAM22, ADAR, ADARB1, ADGRG1, AFG2B, AFG3L2, AHI1, AIFM1, AIMP1, AIMP2, AKT1, AKT2, AKT3, ALDH3A2, ALDH7A1, ALG13, AMT, ANKLE2, ANKRD11, AP3B2, AP4B1, APC2, ARF1, ARFGEF2, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARPC4, ARSA, ARV1, ARX, ASAH1, ASPA, ASPM, ASXL2, ATAD1, ATP1A2, ATP1A3, ATP6V0A1, ATP6V0C, ATP6V1A, ATR, ATRX, B3GALNT2, B4GAT1, B9D1, B9D2, BCAP31, BICRA, BLM, BPTF, BRAF, BRD4, BRWD3, BUB1, BUB1B, C2CD3, CACNA1A, CACNA1B, CACNA1E, CAD, CAMSAP1, CASK, CASP2, CBL, CC2D2A, CCDC88A, CCDC88C, CCND2, CDK19, CDK5, CDK5RAP2, CDKL5, CDKN1C, CDON, CDT1, CELF2, CENPF, CEP104, CEP120, CEP135, CEP152, CEP290, CEP295, CEP41, CEP57, CEP63, CEP85L, CERS1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKA, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CIC, CIT, CKAP2L, CLCN2, CLCN4, CLDN11, CNOT1, CNPY3, CNTNAP1, CNTNAP2, COASY, COL3A1, COL4A1, COL4A2, CPAP, CPLANE1, CPLX1, CRADD, CREBBP, CRPPA, CSF1R, CSNK2B, CSPP1, CSTB, CTNNA2, CTNNB1, CTU2, CUX2, CYFIP2, CYP27A1, CYP7B1, DAG1, DALRD3, DARS1, DARS2, DCX, DDX11, DEGS1, DENND5A, DEPDC5, DHCR7, DIAPH1, DIS3L2, DISP1, DLL1, DMXL2, DNA2, DNM1, DNMT3A, DOCK7, DOHH, DONSON, DPF2, DYNC1H1, DYNC1I2, DYRK1A, EARS2, EED, EEF1A2, EFTUD2, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF5A, ENTPD1, EPM2A, EPRS1, ERCC6, ERCC8, ERMARD, EXT2, EZH2, FA2H, FAM149B1, FAT4, FBXO28, FGF12, FGF13, FGF8, FGFR1, FKRP, FKTN, FLNA, FOLR1, FOXG1, FRA10AC1, FRRS1L, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GALC, GAMT, GBE1, GCDH, GFAP, GINS3, GJC2, GLDC, GLI2, GLI3, GLRA1, GLRB, GLS, GLUL, GMNN, GMPPB, GNAO1, GOSR2, GOT2, GPC3, GPRC5B, GPT2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GUF1, H1-4, H4C3, HCN1, HCN2, HDAC8, HEPACAM, HERC1, HHAT, HIKESHI, HMBS, HNRNPU, HPDL, HRAS, HSD17B4, HSPD1, HTRA1, HUWE1, HYCC1, HYLS1, IER3IP1, IFIH1, IFT172, IFT74, IGF1, IGF1R, INPP5E, INTS11, IQSEC2, ITPA, KARS1, KATNB1, KATNIP, KCNA1, KCNA2, KCNA3, KCNB1, KCNC1, KCNC2, KCNH5, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD7, KDM6A, KIAA0586, KIAA0753, KIF11, KIF14, KIF26A, KIF2A, KIF5C, KIF7, KIFBP, KMT2B, KMT2D, KNL1, KPTN, KRAS, L1CAM, L2HGDH, LAGE3, LAMB1, LAMC3, LARGE1, LARP7, LGI1, LIG4, LMNB1, LMNB2, LSM11, LZTR1, MACF1, MAP1B, MAP2K1, MAP2K2, MAPK1, MAST1, MAST3, MAX, MBD5, MCPH1, MDH1, MDH2, MECP2, MEF2C, METTL5, MFSD2A, MINPP1, MITF, MKS1, MLC1, MOCS1, MOCS2, MORC2, MPDZ, MRAS, MTOR, MYCN, NAPB, NARS1, NAXD, NAXE, NBN, NCAPD2, NCAPD3, NCAPH, NCDN, NDE1, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NFIA, NFIB, NFIX, NHEJ1, NHLRC1, NIPBL, NKX6-2, NONO, NOTCH3, NPHP1, NPHP4, NPRL2, NPRL3, NRAS, NSD1, NSD2, NTRK2, NUP107, NUP188, NUS1, OCLN, OFD1, ORC1, ORC4, ORC6, OSGEP, PACS2, PAFAH1B1, PAK1, PARS2, PCDH12, PCDH19, PCNT, PDCD6IP, PDE6D, PHACTR1, PHF6, PI4KA, PIBF1, PIDD1, PIGA, PIGB, PIGP, PIGQ, PIGS, PIK3CA, PIK3R2, PLAA, PLCB1, PLCH1, PLEKHG2, PLK4, PLP1, PLPBP, PNKP, PNPO, POC1A, POLG, POLR1C, POLR3A, POLR3B, POLR3K, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPFIBP1, PPIL1, PPP1CB, PPP1R12A, PPP1R15B, PPP2CA, PPP2R1A, PPP2R5C, PPP2R5D, PPP3CA, PQBP1, PRDM8, PRICKLE1, PRIM1, PRRT2, PRUNE1, PSAP, PTCH1, PTEN, PTPN11, PTPN23, PUF60, PUS7, PYCR2, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC3, RAD21, RAD50, RAF1, RARS1, RARS2, RASA2, RBBP8, RELN, RHOBTB2, RIN2, RIT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF13, RNF216, RNF220, RNU4-2, RNU4ATAC, RNU7-1, ROGDI, RORB, RPGRIP1L, RPL10, RRAS2, RRP7A, RTTN, RXYLT1, SAMHD1, SARS1, SASS6, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCP2, SEMA6B, SERPINI1, SETD1B, SETD2, SHH, SHOC2, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC1A2, SLC1A3, SLC1A4, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC32A1, SLC35A2, SLC35B2, SLC38A3, SLC4A10, SLC6A1, SLC6A5, SLC6A8, SLC7A6OS, SLC9A6, SLF2, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMC5, SMG8, SNAP25, SNAP29, SNORD118, SOS1, SOS2, SOX10, SOX11, SOX4, SPG11, SPRED1, SPRED2, SPTAN1, ST3GAL3, ST3GAL5, STAG2, STAMBP, STAT2, STIL, STRADA, STX1B, STXBP1, SUFU, SUMF1, SUZ12, SV2A, SVBP, SYNGAP1, SYNJ1, SZT2, TBC1D20, TBC1D24, TBC1D7, TBL1XR1, TCF4, TCTN1, TCTN2, TCTN3, TGIF1, TMEM106B, TMEM107, TMEM138, TMEM163, TMEM216, TMEM218, TMEM231, TMEM237, TMEM63A, TMEM63B, TMEM67, TMTC3, TMX2, TOGARAM1, TOP3A, TP53RK, TRAIP, TRAK1, TRAPPC10, TRAPPC12, TRAPPC4, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM71, TRIO, TRMT10A, TSC1, TSC2, TSEN15, TSEN54, TTC21B, TTC5, TTI1, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TYROBP, UBA5, UBE3A, UFC1, UFM1, UFSP2, UGDH, UGP2, UPF3B, USP18, USP25, VLDLR, VPS11, VRK1, WDFY3, WDR11, WDR4, WDR62, WDR73, WDR81, WLS, WWOX, XRCC4, YIPF5, YWHAG, ZBTB20, ZBTB7A, ZEB2, ZFYVE26, ZIC2, ZNF335, ZNF423

Obogaćivanje kodirajućih i susjednih intronskih regija vrši se tehnologijom hibridizacije u otopini. Selekcija ciljanih regija i dizajn sondi izvode se interno. Sekvenciranje visokog protoka provodi se na Illumina platformama, a bioinformatička obrada podataka na vlastitom računarskom klasteru. Nakon obrade podataka, naš tim naučnika i specijalista humane genetike analizira rezultate i izdaje medicinski nalaz.

1.

Savjetovanje i odabir testa

Zajedno s vama i vašim ljekarom određujemo koji je genski set ili kombinacija setova najprikladnija za kliničku sliku.

2.

Uzorkovanje i slanje

Uzorak se uzima u našoj ustanovi ili kod uputnog ljekara i sigurno transportuje do laboratorije.

3.

Analiza uzorka

ExomeXtra® obogaćivanje, sekvenciranje visokog protoka i bioinformatička obrada uz detekciju CNV-a.

4.

Nalaz i savjetovanje

Detaljan medicinski nalaz s ACMG klasifikacijom varijanti i preporukama, uz mogućnost konsultacije.

• 1–2 ml EDTA krvi (preporučeni tip uzorka)
• Genomska DNK (1–2 µg)
• DBS kartice, bris obraza ili pljuvačka također su mogući

• HLA tipizacija — HLA klasa I (geni A, B, C) i HLA klasa II (geni DPA1, DPB1, DQA1, DQB1, DRB1, DRB3, DRB4, DRB5)
• Analiza ACMG gena — izvještavanje o patogenim varijantama (klase 4 i 5) u odabranim genima za koje postoji preporučeni postupak liječenja ili praćenja (sekundarni nalazi)
• Farmakogenetska analiza (PGx) — analiza varijanti u genima uključenim u metabolizam lijekova, radi prilagođavanja terapije i smanjenja nuspojava

Kome je namijenjen panel za epilepsiju i poremećaje razvoja mozga?

Panel je namijenjen pacijentima s epilepsijom nejasne etiologije, epileptičkim encefalopatijama, razvojnim zastojem, mikrocefalijom ili makrocefalijom, malformacijama mozga i leukodistrofijama, kao i osobama s pozitivnom porodičnom anamnezom.

Koliko traje izrada nalaza?

Nalaz se tipično izdaje 3–4 sedmice nakon prijema uzorka u laboratoriji.

Koliko gena obuhvata panel?

Panel obuhvata 652 gena, a moguće je naručiti pojedinačne genske setove (EPI01–EPI14, BRN01–BRN15) ili ih kombinovati sa setovima iz drugih panela bez dodatnog sekvenciranja.

Zašto je genetska dijagnoza epilepsije važna?

Genetska dijagnoza može direktno usmjeriti odabir antiepileptičke terapije (npr. kod defekata jonskih kanala ili deficita GLUT1), izbjeći nepotrebne pretrage, omogućiti procjenu prognoze i genetsko savjetovanje porodice.