1. Panel chorób neurodegeneracyjnych

Liczba analizowanych genów: 190 Lista analizowanych genów: ATP6AP2, ATP13A2, ATP1A3, ATXN2, ATXN3, COMT, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, LRRK2, MAPT, HTRA2, PARK2, PARK7, PINK1, PLA2G6, POLG, PRKRA, SLC6A3, SNCA, TAF1, TH, UCHL1, VPS35, ARSA, ATM, ATP7A, ATP7B, AUH, CLN3, CSF1R, CYP27A1, GCDH, HEPACAM, HEXA, KCNMA1, MECP2, MLC1, NPC1, NPC2, PANK2, PNKD, PRRT2, SGCE, SLC25A15, SLC2A1, SMPD1, SPR, THAP1, TIMM8A, TOR1A, C19ORF12, CP, DCAF17, FA2H, WDR45, JPH3, XK, ATN1, ATXN7, HTT, KCNA1, PRNP, ABCB7, ABHD12, ADCK3, AFG3L2, APTX, ATXN1, C10ORF2, ATXN10, BEAN1, CACNA1A, DARS2, DNMT1, FGF14, FXN, ITPR1, KCNC3, KCND3, MRE11A, MTTP, MTPAP, NOP56, OPA1, OPA3, PDYN, PEX7, PHYH, PPP2R2B, PRKCG, SACS, SETX, SIL1, SPG7, SPTBN2, SYNE1, TDP1, TGM6, TTBK2, TTPA, VLDLR, ZNF592, C9ORF72, CHMP2B, FUS, GRN, ITM2B, NOTCH3, PSEN1, PSEN2, TARDBP, VCP, APOE, APP, ALS2, ANG, FIG4, NEFH, OPTN, PFN1, PRPH, SIGMAR1, SOD1, SPG20, UBQLN2, VAPB, VEGFA, BSCL2, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, SCO2, TRPV4, UBA1, VRK1, ZFYVE27, CLN5, CLN6, CLN8, CSTB, CTSD, DNAJC5, EPM2A, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, PRICKLE2, SCARB2, TPP1, ABCD1, ADAR, AIMP1, ASPA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, GLB1, HSPD1, L2HGDH, LMNB1, NDUFV1, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SOX10, SPP1, SUMF1, TREX1,

2. Panel zaburzeń rozwojowych mózgu

Liczba analizowanych genów: 119 Lista analizowanych genów: ABCD1, ACTB, ACTG1, ADAR, AIMP1, AKT3, ARFGEF2, ARSA, ARX, ASPA, ASPM, ATR, BUB1B, CASC5, CASK, CDK5RAP2, CDON, CENPJ, CEP135, CEP152, CEP63, COL4A1, DCX, DHCR24, DYNC1H1, DYRK1A, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EOMES, EXOSC3, EZH2, FAM126A, FH, FKRP, FKTN, FLNA, FOLR1, GALC, GFAP, GJC2, GLI2, GPC3, GPR56, HEPACAM, HSPD1, IER3IP1, ISPD, KIF2A, KIF5C, L2HGDH, LAMA2, LAMC3, LARGE, MBD5, MCPH1, MED12, MED17, MEF2C, MLC1, NFIX, NHEJ1, NOTCH3, NSD1, PAFAH1B1, PCNT, PIGA, PIGN, PIK3CA, PIK3R2, PLP1, PNKP, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PQBP1, PSAP, PTCH1, PTEN, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SEPSECS, SHH, SIX3, SLC25A19, SNAP29, SOX10, SRPX2, STIL, SUMF1, TGIF1, TREX1, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBG1, VLDLR, VRK1, WDR62, ZIC2, ZNF335

3. Panel na choroby nerwowo-mięśniowe

Liczba analizowanych genów: 202 Lista analizowanych genów: AARS, ABHD12, ABHD5, ACADVL, ACTA1, ACVR1, AGL, AGRN, AIFM1, ALG2, ANO5, ARHGEF10, ASAH1, ATL1, ATP2A1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CACNA1A, CACNA1S, CAPN3, CAV3, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, CTDP1, DAG1, DCTN1, DES, DMD, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM3, DST, DYNC1H1, DYSF, EGR2, EMD, ENO3, ETFA, ETFB, ETFDH, FAM134B, FBLN5, FGD4, FHL1, FIG4, FKRP, FKTN, FLNC, GAA, GAN, GARS, GBE1, GDAP1, GFPT1, GJB1, GLE1, GMPPB, GNE, GTDC2, GYG1, GYS1, HARS, HINT1, HOXD10, HSPB1, HSPB3, HSPB8, HSPG2, IFRD1, IGHMBP2, IKBKAP, INF2, ISCU, ISPD, ITGA7, KARS, KBTBD13, KCNA1, KCNE3, KIF1A, KIF1B, KLHL9, LAMA2, LAMB2, LAMP2, LARGE, LDB3, LDHA, LITAF, LMNA, LPIN1, LRSAM1, MAMLD1, MATR3, MED25, MEGF10, MFN2, MPZ, MSTN, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYBPC3, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYOT, NDRG1, NEB, NEFL, NGF, NTRK1, PABPN1, PDK3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PLEC, PLEKHG5, PMP22, PNPLA2, POMGNT1, POMT1, POMT2, PRKAG2, PRPS1, PRX, PTRF, PUS1, PYGM, RAB7A, RAPSN, REEP1, RYR1, SBF2, SCN4A, SCN9A, SCO2, SEPN1, SEPT9, SGCA, SGCB, SGCD, SGCG, SH3TC2, SLC12A6, SLC22A5, SLC25A20, SLC5A7, SOX10, SPTLC1, SPTLC2, SURF1, SYNE1, SYNE2, TAZ, TCAP, TMEM43, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIM32, TRPV4, TTN, TTR, UBA1, VAPB, VCP, WNK1, YARS, YARS2

4. Panel na epilepsję

Liczba analizowanych genów: 358 Lista analizowanych genów: ALDH7A1, AMACR, CACNA1A, CACNA1H, CACNB4, CASR, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, , EFHC1, GABRA1, GABRB3, GABRD, GABRG2, GRIN2A, KCNA1, KCNMA1, KCNQ2, KCNQ3, , LGI1, , PRRT2, RBFOX1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC1A3, SLC2A1, TBC1D24, , ACY1, ADAR, ADSL, ALG13, AMT, ARHGEF9, ARX, C10orf2, CDKL5, CHD2, CNTNAP2, CPT2, DCX, DNM1, FLNA, FOLR1, FOXG1, GAMT, GCSH, GLDC, GPHN, GRIN1, GRIN2B, HDAC4, , HNRNPU, IQSEC2, MBD5, MECP2, MEF2C, MOCS1, MOCS2, MTHFR, , NEDD4L, NRXN1, PCDH19, PLCB1, PNKP, PNPO, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SLC19A3, SLC25A22, , SLC9A6, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, , TCF4, TREX1, TSC1, TSC2, UBE3A, WDR45, ZEB2, ATP6AP2, ATRX, CASK, CUL4B, GRIA3, HSD17B10, KDM5C, MED12, OFD1, OPHN1, PAK3, PGK1, PHF6, RAB39B, SMS, SRPX2, SYP, UBE2A, ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, , DPM3, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, RFT1, SLC35A1, SLC35C1, SRD5A3, TMEM165, ASAH1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, , DNAJC5, EPM2A, GOSR2, GRN, KCTD7, MFSD8, NHLRC1, PRICKLE1, PRICKLE2, PPT1, SCARB2, TPP1, ADCK3, APTX, COQ2, COQ6, COQ9, PDSS1, PDSS2, AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41, KIF7, NPHP1, , RPGRIP1L, TCTN1, TCTN2, , TMEM138, TMEM216, TMEM237, TMEM67, TTC21B, AGA, ARSB, CTSA, FUCA1, GALC, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, NEU1, NPC1, NPC2, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, ASPM, ATR, BUB1B, CASC5, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, , DYNC1H1, DYRK1A, EXOSC3, MCPH1, MED17, NHEJ1, , PCNT, PQBP1, RARS2, RBBP8, SEPSECS, SLC25A19, , STIL, TSEN2, TSEN34, TSEN54, , VRK1, WDR62, ZNF335, ABCD1, AIMP1, ARSA, ASPA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, GFAP, GJC2, HEPACAM, HSPD1, L2HGDH, MLC1, NOTCH3, PLP1, POLR3A, POLR3B, RNASET2, SOX10, , ATIC, C12orf57, DHCR7, GNE, KCNJ10, KDM6A, KMT2D, LAMA2, NSD1, PIGO, PIGV, PLA2G6, RAI1, SMARCA2, VPS13A, ACTB, ACTG1, ARFGEF2, COL4A1, , EMX2, EOMES, FH, FKRP, FKTN, GPR56, IER3IP1, ISPD, LAMC3, LARGE, PAFAH1B1, PIK3CA, PIK3R2, POMGNT1, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, ATP1A2, ATP1A3, KCNK18, POLG, GLRA1, GLRB, SLC6A5, CDON, GLI2, PTCH1, SHH, SIX3, TGIF1, , PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, AKT3, DHCR24, EZH2, GPC3, NFIX, PIGA, PIGN, PTEN, ALDH4A1, ALDH5A1, ARG1, BTD, DPYD, ETFA, ETFB, ETFDH, GCDH, GCH1, HPD, PCBD1, PRODH, PTS, QDPR, SLC25A15, SLC46A1, SUOX

5. Panel na spektrum zaburzeń autystycznych

Liczba analizowanych genów: 101 Lista analizowanych genów: ANKRD11, CNTNAP2, FOXP1, KLHL3, NRXN1, PTEN, SLC9A9, ZNF507, AP1S2, CNTNAP5 FOXP2, L1CAM, NSD1, PTPN11SMC1A, ZNF804A, ARX, CREBBP, GABRB3, LAMC3, NTNG1, RAB39B, SMG6, ZNHIT6, ATRX, DHCR7, GABRG1, MBD5, OPHN1, RAI1, SNRPN, AUTS2, DLGAP2, GNA14, MECP2, PAFAH1B1, RBFOX1, SOX5, AVPR1A, DMD, GRIN2B, MED12, PCDH19, RELN, SPAST, BDNF, DOCK4, GRPR, MEF2C, PCDH9, RPL10, ST7, BRAF DPP10, HOXA1, MET, PDE10A, SATB2, STK3, C18orf1, DPP6, HPRT1, MID1, PHF6, SCN1A, TCF4, CACNA1C, EHMT1, IMMP2L, NEGR1, PIP5K1B, SCN2A, TSC1, CASK, FGD1, KATNAL2, NHS, PNKP, SHANK2, TSC2, CDKL5, FMR1, KCTD13, NIPBL, PON3, SHANK3, UBE3A, CHD7, FOLR1, KDM5C, NLGN3, PQBP1, SLC6A4, VPS13B, CHD8, FOXG1, KIRREL3, NLGN4X, PTCHD1, SLC9A6, ZEB2

Pobieranie materiału genetycznego tylko u nas od poniedziałku do piątku w godzinach 9-11!