1. Panel na wrodzone choroby genetyczne
Liczba analizowanych genów: 552
Lista analizowanych genów:
AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ACAD9, ACADL, ACADM, ACADVL, ACAT1, ACOX1, ACSL4, ADA, ADAMTS13, ADAMTSL2, ADCK3, AFF2, AGL, AGPS, AGTR2, AHI1, AIRE, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, AMACR, AMT, ANTXR2, AP1S2, AP3B1, APTX, AR, ARHGEF6, ARHGEF9, ARSA, ARSB, ARSE, ARX, ASL, ASPA, ASS1, ATM, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, B4GALT1, BCKDHA, BCKDHB, BCOR, BCS1L, BLM, BRWD3, BTD, BTK, C10orf2, CA2, CASK, CASP10, CBS, CD19, CD247, CD3D, CD3E, CD3G, CD40LG, CDH23, CDKL5, CEP290, CFP, CFTR, CHRNA1, CHRND, CHRNG, CLCN5, CLCN7, CLDN1, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, COG1, COG7, COG8, COL17A1, COL4A3, COL4A4, COL4A5, COL7A1, COQ2, COQ9, COX10, COX15, COX6B1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CSTB, CTNS, CTSD, CTSK, CUL4B, CYP11A1, CYP11B1, CYP17A1, CYP21A2, CYP27A1, CYP27B1, DBT, DCLRE1C, DCX, DDB2, DDC, DGUOK, DHCR24, DHCR7, DKC1, DLD, DLG3, DLL3, DMD, DMP1, DNAJC19, DNMT3B, DOCK8, DOLK, DPAGT1, DPM1, DPYD, DSP, DYNC2H1, EDA, EDN3, EDNRB, EFEMP2, EFNB1, EGR2, EIF2AK3, ENPP1, EPM2A, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, F8, F9, FAH, FAM126A, FAM20C, FANCC, FAS, FASLG, FASTKD2, FBLN5, FERMT3, FGA, FGD1, FGD4, FH, FKRP, FKTN, FOLR1, FOXG1, FOXN1, FOXP3, FRAS1, FREM2, FTSJ1, FUCA1, G6PC3, G6PD, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GCSH, GDAP1, GDI1, GFM1, GJB2, GJC2, GLA, GLB1, GLDC, GLE1, GNPTAB, GNRHR, GPC3, GPR98, GRIK2, GSS, GTF2H5, GUSB, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBB, HESX1, HEXA, HEXB, HFE2, HGSNAT, HIBCH, HLCS, HMGCL, HPD, HPRT1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSPG2, HUWE1, ICOS, IDS, IDUA, IFNGR1, IFNGR2, IFT80, IGHMBP2, IKBKAP, IKBKG, IL12B, IL12RB1, IL1RAPL1, IL1RN, IL2RG, INSR, INVS, IQCB1, ITGA6, ITGB4, IVD, JAK3, KCNJ1, KDM5C, L1CAM, LAMA2, LAMA3, LAMB2, LAMB3, LAMC2, LARGE, LBR, LEPRE1, LHCGR, LHX3, LIFR, LIG4, LRP2, LRPPRC, LYST, MAN2B1, MBTPS2, MCOLN1, MECP2, MED12, MEFV, MFSD8, MGAT2, MID1, MKS1, MLC1, MMAA, MMAB, MMACHC, MOCS1,
MOCS2, MOGS, MPDU1, MPI, MPL, MPV17, MPZ, MRPS16, MRPS22, MTM1, MUT, MVK, MYD88, MYO5A, MYO7A, NAGLU, NAGS, NBN, NDP, NDUFA1, NDUFA7, NDUFAF2, NDUFAF4, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEB, NEU1, NEUROG3, NHEJ1, NHLRC1, NHS, NLGN4X, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR5A1, NSD1, NSUN2, NTRK1, NUP62, NXF5, OCRL, OFD1, OPA3, OPHN1, ORAI1, OSTM1, OTC, PAH, PAK3, PANK2, PC, PCCA, PCCB, PCDH19, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX26, PEX5, PEX7, PKHD1, PKLR, PLA2G6, PLCE1, PLDN, PLEC, PLEKHG5, PLG, PLOD1, PLP1, PMM2, PMP22, PNPO, POLG, POMGNT1, POMT1, POMT2, POR, POU1F1, PPT1, PQBP1, PRF1, PROP1, PRPS1, PRSS12, PRX, PSAP, PTEN, PTH1R, PYGM, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAG1, RAG2, RAPSN, RELN, RFT1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RPGRIP1L, RPL10, RPS6KA3, RRM2B, SACS, SAMHD1, SBDS, SC5DL, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SEPN1, SFTPB, SFTPC, SGSH, SH2D1A, SHROOM4, SIL1, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC22A5, SLC25A15, SLC25A20, SLC25A22, SLC26A2, SLC35A1, SLC35C1, SLC35D1, SLC37A4, SLC4A11, SLC6A8, SLC9A6, SMN1, SMPD1, SMS, SNAP29, SOX3, SP110, SRD5A2, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STIM1, STRA6, STX11, STXBP2, SUCLA2, SUCLG1, SUOX, SURF1, SYP, TAT, TAZ, TBCE, TCF4, TCIRG1, TGM1, TH, TIMM8A, TK2, TLR3, TMEM67, TNFRSF11B, TPP1, TRAPPC9, TREX1, TRIM37, TSEN54, TSFM, TSHB, TSPYL1, TTPA, TUBA1A, TUFM, TUSC3, TYK2, TYMP, UBA1, UBE2A, UBE3A, UBR1, UNC13D, UNC93B1, UPF3B, UQCRB, UQCRQ, UROS, USH1C, USH1G, USH2A, VDR, VIPAR, VLDLR, VPS13B, VPS33B, WAS, WNT10A, WNT3, WNT7A, XIAP, XPA, XPC, ZDHHC9, ZEB2, ZIC3, ZMPSTE24, ZNF41, ZNF469, ZNF674, ZNF711, COL1A1, COL1A2, COL6A1, COL6A2, COL6A3, DOK7, G6PC, HIBCH, LMNA, OXCT1, UBE3A
2. Panel na choroby i zaburzenia oczu
Liczba analizowanych genów: 237
Lista analizowanych genów:
ABCA4, ABHD12, ACBD5, ADAM9, AGK, AHI1, AIPL1, ALMS1, AP3B1, ARL13B, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C10orf11, C1QTNF5, C2orf71, C5orf42, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP41, CERKL, CHM, CHMP4B, CIB2, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CYP1B1, DFNB31, DHDDS, DTNBP1, EFEMP1, ELOVL4, EPHA2, EYA1, EYS, FAM161A, FLVCR1, FOXC1, FOXE3, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALK1, GCNT2, GJA3, GJA8, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GPR98, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, IDH3B, IMPDH1, IMPG2, INVS, IQCB1, KCNJ13, KCNV2, KIF7, KLHL7, LCA5, LEPREL1, LIM2, LRAT, LRP5, LYST, LZTFL1, MAF, MAK, MC1R, MERTK, MFN2, MIP, MKKS, MKS1, MYO7A, NDP, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, OCA2, OPA1, OPA3, OTX2, PAX6, PCDH15, PDE6B, PDE6C, PDE6H, PDZD7, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PITX2, PITX3, PLA2G5, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PXDN, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SIL1, SIX6, SLC16A12, SLC24A1, SLC45A2, SMOC1, SNRNP200, SOX2, SPATA7, SPG7, STRA6, TCTN1, TCTN2, TDRD7, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TULP1, TYR, TYRP1, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, WDPCP, ZNF423, ZNF513,
3. Panel na spektrum chorób metabolicznych
Liczba analizowanych genów: 99
Lista analizowanych genów:
ABCD1, ADCK3, AGA, ALDH4A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, APTX, ARSB, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ6, COQ9, CTSA, DDOST, DOLK, DPAGT1, DPM1, DPM3, ETFA, ETFB, ETFDH, FUCA1, GALC, GALNS, GCDH, GCH1, GCSH, GLB1, GLDC, GNPTAB, GNPTG, GNS, GPHN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, MAN1B1, MCOLN1, MGAT2, MOCS1, MOCS2, MOGS, MPDU1, MPI, NAGLU, NEU1, NPC1, NPC2, PCBD1, PDSS1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PMM2, PRODH, PSAP, PTS, QDPR, RFT1, SGSH, SLC17A5, SLC35A1, SLC35C1, SMPD1, SRD5A3, SUMF1, TMEM165
4. Panel na zaburzenia kanałów jonowych
Liczba analizowanych genów: 103
Lista analizowanych genów:
ACTA1, AGRN, AKAP9, ALG2, ANK2, ANO5, ATP1A2, ATP1A3, ATP2A1, ATP6V1B1, BSND, CA2, CABP4, CACNA1A, CACNA1C, CACNA1F, CACNA1S, CACNA2D4, CACNB4, CASR, CAV3, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CLCNKA, CLCNKB, CLDN16, CLDN19, CNGA1, CNGA3, CNGB1, CNGB3, COL6A1, COL6A2, COL6A3, COLQ, DMD, DOK7, DYSF, FXYD2, GFPT1, GLRA1, GLRB, HINT1, HSD11B2, HSPG2, KCNA1, KCNC3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ1, KCNJ10, KCNJ13, KCNJ2, KCNJ5, KCNK18, KCNMA1, KCNQ1, KCNQ2, KCNV2, KLHL3, LAMB2, MUSK, NOTCH3, NR3C2, NTRK1, P2RX7, PLEC, PNKD, POLG, PRRT2, RAPSN, RYR1, SCN1A, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SEPN1, SLC12A1, SLC12A3, SLC1A3, SLC2A1, SLC4A1, SLC4A4, SNTA1, TPM3, TRPA1, TRPM1, TRPM4, TRPV1, TTN, WNK1
5. Panel na spektrum chorób tkanki łącznej
Liczba analizowanych genów: 31
Lista analizowanych genów:
ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, CHST14, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, PLOD1, PYCR1, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB,
6. Panel na spektrum chorób skóry
Liczba analizowanych genów: 204
Lista analizowanych genów:
C10orf11, GPR143, LYST, MC1R, OCA2, SLC45A2, TYR, TYRP1, AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6, EDN3, EDNRB, HAMP, HFE, HFE2, KIT, KRT14, KRT5, MITF, MLPH, MYO5A, NF1, NF2, PAX3, PTPN11, RAB27A, SLC40A1, SNAI2, SOX10, SPRED1, STK11, TFR2, USB1, ABCA12, ABHD5, ALDH3A2, ALMS1, ALOX12B, ALOXE3, AP1S1, ATP2A2, ATP2C1, CARD14, CDSN, , CLDN1, CSTA, CTSC, CYP4F22, DSG1, DSP, EBP, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GTF2H5, JUP, KRT1, KRT10, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, NSDHL, PNPLA1, POMP, RHBDF2, SLC27A4, SLURP1, SMARCAD1, SNAP29, SPINK5, ST14, STS, SUMF1, TAT, TGM1, TGM5, COL17A1, COL7A1, DST, , FERMT1, ITGA3, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2, PKP1,
PLEC, BRAF, CDH3, EDA, EDAR, EDARADD, GJB6, IFT122, IFT43, KRT85, MAP2K1, MAP2K2, MSX1, PVRL1, TP63, TRPS1, TWIST2, WDR35, ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, CHST14, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, PLOD1, PYCR1, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ABCC9, APCDD1, BANF1, BCS1L, DLX3, DSC3, DSG4, FOXN1, HR, KRT74, KRT81, KRT83, KRT86, LIPH, LPAR6, , PORCN, RBM28, RMRP, SHOC2, , SOX18, DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53, ATM, AXIN2, BLM, CYLD, DDB2, ERCC4, ERCC5, ERCC6, ERCC8, FLCN, POLH, PRKAR1A, PTCH1, RECQL4, TSC1, TSC2, XPA, XPC, CBL, HRAS, KRAS, NRAS, RAF1, SOS1
7. Panel na zaburzenia słuchu
Liczba analizowanych genów: 118
Lista analizowanych genów:
CDH23, CIB2, CLDN14, COL11A2, COL4A6, DFNB31, DFNB59, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, PRPS1, PTPRQ, RDX, SERPINB6, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, ACTG1, CCDC50, CEACAM16, COCH, CRYM, DFNA5, DIABLO, DIAPH1, DIAPH3, DSPP, EYA4, GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO1A, POU4F3, SLC17A8, TJP2, TNC, WFS1, ABHD12, ALMS1, ANKH, ATP6V1B1, BSND, CACNA1D, CD151, CDKN1C, CHD7, CHSY1, CLRN1, COL11A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, DLX5, EDN3, EDNRB, EYA1, FGF3, FOXI1, GATA3, GPR98, KCNE1, KCNJ10, KCNQ1, MANBA, MITF, NDP, NLRP3, PAX3, PDZD7, POLR1C, POLR1D, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1G, USH2A
8. Panel na choroby nerek
Liczba analizowanych genów: 136
Lista analizowanych genów:
GLIS2, INVS, NEK8, NPHP1, NPHP3, NPHP4, TMEM67, TTC21B, WDR19, XPNPEP3, EYA1, HNF1B, PAX2, PKD2, PKHD1, SIX5, UMOD, ACE, AGT, AGTR1, REN, BICC1, BMP4, CHD1L, FOXC1, GATA3, GDNF, RET, ROBO2, SIX1, SOX17, TFAP2A, UPK3A, WT1, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, ACTN4, APOL1, CD2AP, INF2, MYO1E, TRPC6, CD151, COL4A3, COL4A4, COL4A5, MYH9, C1QA, C1QB, C1QC, ATP6V0A4, ATP6V1B1, SLC4A1, BSND, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3, CLCN5, DMP1, ENPP1, FGF23, OCRL, PHEX, CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, AQP2, AVPR2, AVP, GRHPR, HOGA1, ADAMTS13, C3, CD46, CFB, CFH, CFHR1,
CFHR3, CFHR5, CFI, THBD, CPT2, CTNS, DHCR7, LMX1B, LRP2, NOTCH2, OFD1, SALL4, VIPAS39, VPS33B, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP, LZTFL1, ALMS1, AHI1, ARL13B, C5orf42, CC2D2A, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, B9D1, B9D2, IQCB1
9. Panel na ciliopatie
Liczba analizowanych genów: 58
Lista analizowanych genów:
CCDC103, CCDC39, CCDC40, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYX1C1, HEATR2, HYDIN, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9, AHI1, ARL13B, C5orf42, CC2D2A, , CEP290, CEP41, KIF7, NPHP1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TTC21B, INVS, IQCB1, NPHP3, NPHP4, SDCCAG8, ARL6, , BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, MKKS, MKS1, TRIM32, TTC8, WDPCP, LZTFL1, ALMS1
10. Panel na albinizm
Liczba analizowanych genów: 22
Lista analizowanych genów:
AP3B1, BLOC1S3, BLOC1S6, C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1, SLC24A5.
11. Panel na choroby genetyczne wśród Żydów Aszkenazyjskich
Liczba analizowanych genów: 33
Lista analizowanych genów:
ABCC8, AGL, ASPA, BCKDHB, BLM, BRCA1, BRCA2, CFTRCLRN1, CYP21A2, DLD, F11, FANCC, FKTN, G6PC, GBA, GJB2, HEXA, IKBKAP, LCA5, LDLR, LRRK2, MCOLN1, MEFV, MSH2, MSH6, NEB, PCDH15, SERPINA1, SMN1, SMPD1, TMEM216, TOR1A
