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Společnost lékařské genetiky a genomiky
České lékařské společnosti Jana Evangelisty Purkyně, z. s.

Molekulárně-genetická laboratoř

NázevFakultní nemocnice Ostrava
OdděleníOddělení lékařské genetiky, Laboratoř DNA diagnostiky
IČO00843989
Adresa17. listopadu 1790
Ostrava
70852
Telefon597 373 202
Fax
Web https://www.fno.cz/oddeleni-lekarske-genetiky/dna-laborator
E-mailalfons.balcar@fno.cz, sylwia.reckova@fno.cz, pavlina.plevova@fno.cz
Kontaktní osoba
Akreditace ČIA8233
Poznámky
Poslední aktualizace:5. června 2020
ID pro editaci:MG56

Prováděná vyšetření

Název Gen MIM OrphaCode EQA REF
Def. faktoru II, protrombinu, 20210G-A polymorfismus F2 176930
Šárka Hilscherová
Sy. Gilbert UGT1A1 143500
Bc. Monika Kudrejová
Def. faktoru V APC, F5, G169A 227400
Šárka Hilscherová
Delece v AZF na Y chromozomu (sterilita u mužů) AZFa,b,c 415000
Mgr. Lucie Faldynová
Hemoglobinopatie HBB 141900
Mgr. Hana Uhlíková, Ph.D.
Def. alfa-1-antitrypsinu SERPINA1 107400
Šárka Hilscherová
Spinální muskulární atrofie typ I SMN1 253300
Mgr. Jarmila Valečková, Mgr. Hana Uhlíková, Ph.D.
Hemochromatóza HFE 235200
Šárka Hilscherová
Hereditární pankreatitida PRSS1, PRSS1, SPINK1, CFTR 167800
Šárka Hilscherová
Tiopurinová S-Metyltransferáza TPMT 610460
Bc. Monika Kudrejová
Angelmanův syndrom ANCR, UBE3A 105830
Mgr. Kateřina Buržáková
Sy. Prader-Willi, PWS PWCR 176270
Mgr. Kateřina Buržáková
Sy. DiGeorge/CATCH22/ DGS 188400
Mgr. Hana Uhlíková, Ph.D.
Obezita 16q12.2 601665
Mgr. Kateřina Buržáková
Aneuploidie chromozomů 13,18, 21, X a Y metodou QF PCR QF PCR 900013
RNDr. S. Rečková, Mgr. J. Valečková, Mgr. L. Faldynová, Mgr. B. Balcárková, Ph.D. ...
Cystická fibróza CFTR 219700
RNDr. Hana Kolaříková, Bc. Monika Kudrejová

NGS panely

Alportův syndrom, 6 genů
CFHR5, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
Kontaktní osoba: MUDr. Pavlína Plevová, Ph.D.
AR hydrocefalus
B3GALNT2, CCDC88C, DAG1, FKRP, FKTN, ISPD, MPDZ, POMGNT1, POMT1, POMT2, PTEN, SGK196.
Kontaktní osoba: RNDr. Sylwia Rečková
Familiární cerebrální kavernózní malformace
CCM1/KRIT, CCM2, PDCD10
Kontaktní osoba: Mgr. Jana Indráková
Hereditární nádorové syndromy, 84 genů
AKT1, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRF1, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, CYLD, DICER1, ENG, EPCAM, ERCC3, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCM, FANCP, FLCN, FOXL2, GPRC5A, GREM1, IDH1, IDH2, KLLN, KRAS, LKB1/STK11, MAD2L2, MET, MLH1, MLH3, MN1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NRAS, NTHL1, PALB2, PARP1, PARP2, PDGFB, PIK3CA, PMS2, PMS2CL, POLD1, POLE, POT1, PPM1D, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RECQL, RECQL4, RET, RINT1, RNF43, RPS20, SCG5, SMAD4, SMARCA4, SRY, TEX15, TP53, WRN.
Kontaktní osoba: Mgr. Lucie Faldynová, Mgr. Barbora Balcárková, Ph.D., MUDr. Pavlína Plevová, Ph.D.
Hypercholesterolemie
APOB, APOE, LDLR, LDLRAP1, PCSK9, STAP1
Kontaktní osoba: Mgr. Petra Tvrdá
Malý vzrůst, idiopatický
FGFR3, SHOX
Kontaktní osoba: Ing. Petra Cibulková, MBA
Mentální retardace, 144 genů
ABCD1, ACSL4, AFF2, AGTR2, AIFM1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, B3GALNT2, B3GNT1, BCOR, BRWD3, CASK, CCDC22, CCDC88C, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, COL4A1, CUL4B, DAG1, DCX, DKC1, DLG3, DMD, EBP, EIF2S3, FAAH2, FANCB, FGD1, FKRP, FKTN, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GMPPB, GPC3, GRIA3, GSPT2, GTDC2, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, ISPD, JARID1C, (KDM5C), KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MPDZ, MTM1, NAA10, NDP, NDUFA1, (NEMO), NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PHGDH, PLP1, POMGNT1, POMT1, POMT2, PORCN, PQBP1, PRPS1, PSAT1, PSPH, PTCHD1, PTEN, RAB39B, RAB40AL, RBM10, RIBC1, RPL10, RPS6KA3, SGK196, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, THOC2, TIMM8A, TM4SF2, TMEM5, (TSPAN7), TSPAN7, UBE2A, UPF3B, USP9X, WDR13, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF674, ZNF711, ZNF81
Kontaktní osoba: RNDr. Sylwia Rečková
Mikrocefalie, 105 genů
ACTB, AGMO, ANKLE2, ANKRD11, AP3B1, ARFGEF2, ARID1B, ASPM/MCPH5, ATR, AUTS2, BUB1B, CASC5, CASC5, CASK, CASK, CDK5RAP2, CDK5RAP2, CDK6, CENPE, CENPF, CENPJ, CENPJ, CEP135, CEP152, CHRD, CKAP2L, CLP1, COX7B, CRIPT, CTNNB1, DIAPH1, DMRTA2, DNML1, DPP6, DYRK1A, EFTUD2, EP300, ERCC6, EXOSC3, FOXG1, FTO, GLI2, HDAC8, HMGB3, IER3IP1, IQSEC2, KATNB1, KIF11, KIF1BP, MCPH1, MED17, MFSD2A, MSMO1, MYCN, NBN, NDE1, NHEJ1, NIPBL, OCLN, ORC1, PAFAH1B1, PCLO, PEX6, PHC1, PHGDH, PLEKHG2, PLK4, PNKP, POGZ, PPP1R15B, PQBP1, QARS, RAB3GAP1, RAD21, RAD50, RBBP8, RTTN, SASS6, SHH, SHOX2(SHOT), SLC1A4, SLC25A19, SLC2A1, SLC9A6, SMC1A, SMC3, SOX11, SPATA5, STAMBP, STEAP3, STIL, TAF2, THOC6, TRAIP, TRAPPC9, TRMT10A, TSEN54, TUBA1A, TUBB, TUBB2B, TUBGCP4, TUBGCP6, TUBGCP6, VPS13B, WDR62, WDR73, XRCC4, XRCC4, ZBTB18, ZEB2, ZNF335
Kontaktní osoba: Mgr. Lucie Faldynová
Neurodegenerace, 173 genů
ABCA7, ADCY5, ADH1C, ALOX5, ALS2, ANG, ANO3, ANXA11, APOE, (ApoJ), APP, APTX, ARSA, ATL1, ATM, ATP13A2, ATP1A3, ATP7B, ATXN2, ATXN3, ATXN8OS, AUH, BCAP31, C19orf12, C9orf72, CACNA1B, CACNA1G, CD36, CHAT, CHCHD10, CHCHD2, CHMP2B, CIZ1, CLU, COASY, COL6A3, CP, CRAT, CSF1R, DAB1, DAO, DCAF17, DCTN1, DDC, DNAJC12, DNAJC13, DNAJC6, DNMT1, DYT1, EEF2, EIF4G1, ELOVL4, ELOVL5, ERBB4, ERLIN1, FA2H, FAT2, FBXO7, FGF14, FIG4, FTL, FUS, GBA, GCDH, GCH1, GIGYF2, GLE1, GLUD2, GNAL, GNAO1, GNE, GRM1, GRN, GTPBP2, HEXA, HEXB, HNRNPA1, HPCA, HPRT1, HTT, IDE, ITM2B, ITPR1, KCNC3, KCND3, KCNMA1, KCTD17, (KIAA0693), KIF1C, KIF5A, KMT2B, LMNB1, LRRK2, MAPT, MATR3, MME, MMUT, NEFH, NEK1, NOTCH3, OPTN, PANK2, PANK3, PARK2, PARK7, PCCA, PCCB, PCNA, PDGFB, PDGFRB, PDYN, PFN1, PGKCG, PICALM, PINK1, PLA2G6, PLD3, PNKD, POLG, PRKRA, PRNP, PRPH, PRRT2, PSEN1, PSEN2, PTS, PUM1, RAB39B, RELN, REPS1, SCA20, SCA32, SETX, SGCE, SIGMAR1, SLC18A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SNCA, SOD1, SPAST, SPG11, SPR, SPTBN2, SQSTM1, SS18L1, STUB1, SYNJ1, TAF1, TARDBP, TBK1, TBP, TGM6, TH, THAP1, TIA1, TIMM8A, TMEM240, TNK1, TOMM40, TOR1A, TRPC3, TTBK2, TUBA4A, TUBB4A, TYROBP, UBQLN2, UCHL1, VAPB, VCP, VPS13C, VPS35, WDR45.
Kontaktní osoba: RNDr. Sylwia Rečková
Onemocnění a vady očí, 599 genů
AAAS, ABCA1, ABCA4, ABCB6, ABCC6, ABHD12, ABHD5, ACBD5, ACO2, ACTB, ACTG1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRV1, AGBL1, AGBL5, AGK, AGPS, AHI1, AIPL1, ALDH18A1, ALDH1A3, ALMS1, ANOS1, AP3B1, AP3D1, APC, APTX, ARHGEF18, ARL13B, ARL2BP, ARL6, ARMC9, ARNT2, ARR3, ARSG, ASB10, ATF6, ATOH7, ATP1A2, ATP1A3, ATXN1, ATXN7, B3GALNT2, B3GALT1, B3GLCT, B3GNT1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BDNF, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BMP7, BRD4, C10ORF2, C12orf57, C12orf65, C1QTNF5, C5orf42, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CASK, CC2D2A, CCDC111, CDH23, CDH3, CDHR1, CENPF, CEP104, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFB, CFH, CFI, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2, CISD2, CLDN19, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL25A1, COL2A1, COL4A1, COL4A3, COL8A2, COL9A1, COL9A2, COL9A3, COX7B, CPAMD8, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CST3, CTC1, CTDP1, CTNNA1, CTNNB1, CX3CR1, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DAG1, DCN, DDX59, DHCR7, DHDDS, DHX38, DNM1L, DNMBP, DRAM2, DTHD1, DTNBP1, EDN3, EDNRB, EED, EFEMP1, ELOVL4, ELOVL5, ELP1, ELP4, EMC1, EPG5, EPHA2, EYA1, EYS, FAM126A, FAM161A, FAR1, FBLN5, FBN1, FBN2, FGF10, FGF8, FGFR1, FKRP, FKTN, FLNA, FLVCR1, FOXC1, FOXD3, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FXN, FYCO1, FZD4, FZD5, GALK1, GALT, GCNT2, GDF3, GDF6, GFER, GJA1, GJA3, GJA8, GLI2, GLI3, GLIS3, GMPPB, GNAT1, GNAT2, GNB3, GNPAT, GNPTG, GP1BA, GPR125, GPR143, GPR179, GRHL2, GRID2, GRIP1, GRK1, GRM6, GSN, GTF2H5, GUCA1A, GUCA1B, GUCY1A1, GUCY2D, GZF1, HARS, HCCS, HERC2, HESX1, HGSNAT, HK1, HMCN1, HMGB3, HMX1, HOXA1, HPS1, HPS3, HPS4, HPS5, HPS6, HS6ST2, HSF4, HTRA1, HTRA2, HYLS1, IARS2, IDH3B, IFT140, IFT172, IFT27, IFT43, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, IQCB1, ISPD, ITM2B, ITPR1, JAG1, JAM3, KCNJ13, KCNV2, KERA, KIAA0586, KIAA1549, KIF11, KIF21A, KIF7, KIT, KITLG, KIZ, KLHL7, KMT2D, KRT12, KRT3, LAMA1, LAMB2, LARGE, LCA5, LCAT, LEMD2, LHX3, LHX4, LIM2, LMX1B, LONP1, LOXHD1, LOXL1, LOXL3, LRAT, LRIT3, LRMDA, LRP2, LRP5, LRPAP1, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAFB, MAK, MAN2B1, MC1R, MED25, MERTK, MFN2, MFRP, MIP, MIPEP, MITF, MKKS, MKS1, MLPH, MSMO1, MSTO1, MTPAP, MTTP, MUSK, MVK, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NDUFB11, NDUFS1, NEK2, NEUROD1, NF2, NHS, NLRP1, NMNAT1, NOTCH2, NPHP1, NPHP2, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OR2W3, OTX2, OVOL2, P3H2, P4HA2, PABPN1, PANK2, PANK4, PAX2, PAX3, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHOX2A, PHYH, PIK3R1, PIKFYVE, PITPNM3, PITX1, PITX2, PITX3, PLA2G5, PLK4, PMM2, PNKP, PNPLA6, POC1B, POLA1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POU1F1, PRCD, PRDM13, PRDM5, PROKR2, PROM1, PROP1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PUF60, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RAPSN, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, RYR1, SACS, SAG, SALL2, SALL4, SC5D, SCAPER, SCLT1, SCO2, SDCCAG8, SEMA4A, SETX, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A3, SLC25A4, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC7A14, SLITRK6, SMO, SMOC1, SNAI2, SNRNP200, SNX3, SOX1, SOX10, SOX2, SOX3, SPATA7, SRD5A3, STN1, STRA6, STS, STX3, TACSTD2, TAX1BP3, TBC1D20, TCF4, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFBI, TIMM8A, TIMP3, TINF2, TLR4, TMEM126A, TMEM237, TMEM5, TMEM98, TOPORS, TP63, TPP1, TRAF3IP1, TREX1, TRIM32, TRIM37, TRIM44, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBB3, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBE3B, UBIAD1, UNC119, UNC45B, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, WT1, XPNPEP2, XYLT2, YAP1, YME1L1, ZBTB20, ZEB1, ZFH4, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644.
Kontaktní osoba: RNDr. Jana Pospíšilová, Ph.D.
Onemocnění a vady srdce, 214 genů
A2ML1, ABCA7, ABCC9, ACTA1, ACTA2, ACTC1, ACTN2, ACVR2B, AKAP9, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, APOA2, APOB, APOE, APP, B2M, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, (CAVIN4), CBL, CFC1, CITED2, COL3A1, COL5A1, COL5A2, COX15, CRELD1, CRYAB, CSRP3, CST3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, EPG5, EYA4, FBN1, FBN2, FGA, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNA, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GDF1, GJA1, GJA5, GLA, GPD1L, GSN, HCN4, HFE, HRAS, ILK, ITM2B, JAG1, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, (KCNE1L), KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KRAS, LAMA4, LAMP2, LDB3, LMNA, LOX, LTBP2, LYZ, LZTR1, MAP2K1, MAP2K2, MFAP5, MIB1, MMP21, MRAS, MURC, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NKX2-6, NODAL, NOS1AP, NOTCH1, NPPA, NRAS, OSMR, PDLIM3, PKD1L1, PKP2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PRKAR1A, PRKG1, PRNP, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA2, RBM20, RIT1, ROBO4, RRAS, RRAS2, RYR2, SAA1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCD, SHOC2, SLC25A4, SLC2A10, SLMAP, SMAD3, SMAD4, SMAD6, SNTA1, SORL1, SOS1, SOS2, SYNE2, TAF1A, TAZ, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOMM40, TPM1, TRDN, TREM2, TRPM4, TSPYL1, TTN, TTR, TXNRD2, VCL, ZFPM2, ZIC3.
Kontaktní osoba: Ing. Radka Sítková
Onemocnění ledvin, 357 genů
ABCA3, ABCC6, ACE, ACTN4, ADAMTS9, AGT, AGTR1, AGTR2, AGXT, AHI1, ALG8, ALMS1, ANKFY1, ANKS6, ANLN, ANOS1, AP2S1, APOL1, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL3, ARL6, ARMC9, ATP6AP2, ATP6V0A4, ATP6V1B1, ATP8B1, AVIL, AVPR2, B9D1, B9D2, BAG6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BMP7, BMPR1B, BMPR2, BOLA3, BSND, C3, C5orf42, c8orf37, C9orf72, CA2, CASR, CC2D2A, CCDC28B, CCM2, CD2AP, CD46, CDC5L, CDC73, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP55, CEP83, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CHD1L, CHRM3, CLCN5, CLCNKA, CLCNKB, CLDN14, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ8B, CRB2, CSF2RA, CSF2RB, CSPP1, CTC1, CTNS, CUL3, CYP11B2, CYP17A1, CYP24A1, DACT1, DCDC2, DGKE, DMP1, DNAJB11, DSTYK, DYNC2H1, DYNC2LI1, DZIP1L, EGF, EHHADH, EIF2AK4, ELMOD2, EMP2, EMX2, ENG, ENPP1, EVC, EVC2, EYA1, FAM111A, FGF20, FGF23, FGF8, FGF9, FN1, FOXC1, FOXE1, FOXH1, FOXI1, FRAS1, FREM1, FREM2, FXYD2, G6PC, GALNT3, GANAB, GAPVD1, GATA3, GATA6, GBE1, GDNF, GLIS2, GLIS3, GNA11, GOSR2, GREB1L, GREM1, GRHPR, GRIP1, HNF1B, HNF4A, HOGA1, HSD11B2, HYLS1, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, ILK, INF2, INPP5E, INTU, INVS, IQCB1, ITGA8, KANK2, KAT6B, KCNA1, KCNA5, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KCNK3, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF3B, KIF7, KL, KLHL3, KRIT1, LAMB2, LCA5, LIN7C, LRP4, LRP5, LRRCC1, LZTFL1, MAGED2, MAGI2, MAPKBP1, MEN1, MKKS, MKS1, MYH9, MYO1E, MYOG, NCF1, NEK1, NEK4, NEK8, NFU1, NKX2-1, NKX2-5, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR1H4, NR3C2, NRIP1, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP93, OCRL, PAX2, PAX8, PBX1, PCBD1, PCDH15, PCNT, PCSK5, PDCD10, PDE2A, PDE6D, PHEX, PIBF1, PKD1, PKD2, PKHD1, PLCE1, PLK4, PLXND1, PMM2, PNPLA6, POC1A, PRKCD, PRKCSH, PTPN22, PTPRO, RDH12, REN, RET, ROBO2, RPE65, RPGRIP1, RPGRIP1L, SALL1, SALL4, SCARB2, SCN1A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SFTPA1, SFTPB, SFTPC, SFTPD, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC26A4, SLC2A2, SLC34A1, SLC34A3, SLC36A4, SLC37A4, SLC3A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMAD4, SMAD9, SMARCAL1, SOX17, SPRY2, SUFU, TBC1D8B, TBX18, TCTEX1D2, TCTN1, TCTN2, TCTN3, TH, THBD, THRA, THRB, TJP2, TMEM107, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM256, TMEM67, TRAF3IP1, TRIM32, TRPC6, TRPM6, TRPM8, TSC2, TSHR, TTC21B, TTC8, TTF1, TXNDC15, ULK4, UMOD, UPK3A, USF2, UTRN, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR72, WDR73, WHRN, WNK1, WNK4, WNT4, WT1, XDH, XPNPEP3, ZNF423
Kontaktní osoba: Mgr. Jana Indráková
Porucha metabolizmu surfaktantu
ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD, TTF1
Kontaktní osoba: Mgr. Jana Indráková
Rezistence na thyroidální hormony
FOXE, NKX2-1, NKX2-5, PAX8, SLC36A4, THRA, THRB, TSHR
Kontaktní osoba: Mgr. Jana Indráková
Vrozená porucha sluchu, 174 genů
ABHD12, ACTG1, ADCY1, APOD, ATP1A2, ATP2B2, ATP6V1B1, BDP1, BSND, C19orf53, CA14, CABP2, CATSPER2, CCDC50, CCS, CDH23, CEACAM16, CEP250, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, CLU, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCDC2, DDR2, DFNA5, DGCR6, DIABLO, DIAPH1, DIAPH3, DNFB31, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FAM189A2, FAM65B, FBXO2, FGF3, FGFR3, FOXD1, FOXI1, GIPC3, GJA1, GJB2, GJB3, GJB6, GPR98/ADGRV1, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HSD17B4, HYI, IARS2, IGFBP6, ILDR1, INF2, ISLR, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIAA1199/CEMIP, LARS2, LHFP, LHFPL5, LOXHD1, LRP1, LRTOMT, MARVELD2, MASP1, MET, MGP, MIA, MITF, MSRB3, MT3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NARS2, NDP, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTOR, P2RX2, PAX3, PCDH15, PCDHGC3, PDZD7, PJVK/DFNB59, PLEKHB1, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTGDS, PTPRQ, RBP1, RDX, S100A13, SELM, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC26A4, SLC26A5, SLC33A1, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, UBA52, USH1C, USH1G, USH2A, USH3/CLRN1, USP11, UTY, VAMP5, WFS1, WHRN, WNK2, ZNF288/ZBTB20, ZP2
Kontaktní osoba: Mgr. Petra Tvrdá, Mgr. Martina Paprskářová
Vrozené kostní anomálie, 444 genů
ACAN, ACP5, ACVR1, ADAMTSL2, AGA, AGO3, AGPS, AKT1, ALDH1A2, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD35, ANO5, ANTXR2, ARHGAP31, ARID1A, ARID1B, ARL6, ARSB, ARSE, ATP6V0A2, B4GALT7, B9D2, BBS1, BBS10, (BBS11), BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, (BLIMP1), BLM, BMP1, BMP2, BMP4, BMP7, BMPER, BMPR1B, BRCA2, BRIP1, BTRC, (BTRCP), CA2, (CalDAG-GEF1), CANT1, CASR, CC2D2A, CCDC8, CD96, CDC6, CDH3, CDKN1C, CDT1, CENPE, CEP120, CEP290, CHD7, CHST14, CHST3, CHSY1, CHUK, CLCN5, CLCN7, (CMG2), COG1, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CTNNB1, CTSA, CTSK, CUL7, (CXORF5), CYP26B1, CYP27B1, CYP2R1, (DACTYLIN), DDR2, DDX59, DHCR24, DHCR7, DHODH, DKK1, DLL3, DLX1, DLX2, DLX3, DLX5, DLX6, DMP1, DOCK6, (dříve, DYM, DYNC2H1, EBP, EDN1, EFNB1, EIF2AK3, (EIF2C3), EMX2, En1, ENPP1, EOGT, EP300, EPHA3, ESCO2, ETS1, ETS2, ETV4, ETV5, EVC, EVC2, EXT1, EXT2, EZH2, FAM111A, FAM20C, FAM58A, FANCA, FANCB, FANCC, (FANCD1), FANCD2, FANCE, FANCF, FANCG, FANCI, (FANCJ), FANCL, FANCM, (FANCN), (FANCO), FBLN1, FBN1, FBN2, FBXW4, FBXW4, FERMT3, FGF10, FGF16, FGF17, FGF23, FGF4, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, FMN1, FOXC1, FREM1, FREM2, FREM3, FUCA1, GABPA, GALNS, GALNT3, GDF5, GDF6, GJA1, GLB1, GLI1, GLI2, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC6, GREM1, GUSB, HAND2, HDAC4, HES7, HFE2, (HGSNAT), HOX5), HOXA10, HOXA11, HOXA13, HOXA3, HOXA9, HOXB3, HOXB9, HOXC10, HOXC9, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD9, HPGD, HSGNAT, (HSPG2), HSS, ICK, IDH1, IDH2, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IHH, IKBKG, (IKKA), IL1RN, IMPAD1, INPP5E, INPPL1, IRF6, ISL1, ITGA10, KAT6B, KBP10, KIF22, KIF7KL, (KIND3), LBR, LBX1, LBX2, LEMD3, LEPRE1, LFNG, LIFR, LIX1L, LMBR1, LMNA, LMX1B, LOXL3, LPIN2, LRP4, LRP5, MAFB, MAN2B1, MANBA, MATN3, MEIS1, meis2, MEIS3, MEOX1, MEPE, MESP2, MGP, MIPOL1, MKKS, MKS1, MMP13, MMP2, MMP9, MNX1, MSX2, MYCN, NAGLU, NBN, NEK1, (NEMO), NEU1, NF1, NFIX, NFkB2, NIN, NIPBL, NKX3-2, NLRP3, NOG, NOTCH2, NPHP3, NPPC, NPR2, NSD1, NSDHL, NSMCE2, OBSL1, OFD1, OFD1, OPG, ORC1, ORC4, ORC6, OSTM1, (P3H1), P4HB, PALB2, PAM16, PAPSS2, PAX1, PBX1, PBX2, PBX3, PBX4, PCNA, PCNT, PCYT1A, PDE4D, PEX11B, PEX7, PGAP2, PGAP3, PGM3, PHEX, PHF8, (PHF9), PIAS3, PIGO, PIGV, PITX1, PITX2, PLC, PLEKHM1, PLOD2, PLS3, (PLZF), POC1A, POLR1C, POLR1D, POLR3GL, POR, PORCN, PPIB, PRDM1, PRG4, PRKAR1A, PROM1, (PROML1), PRRX1, PRRX2, PTCH1, (PTH1R), PTHLH, PTHR1, PTPN11, PYCR1, RAB23, RAD51C, (Raldh2), RANK, RANKL, RARB, RASGRP2, RBM8A, RBPJ, RDH10, (RECQL3), RECQL4, ROR2, RPGRIP1L, RPL11, RPL5, RPS19, RUNX2, SALL1, SALL4, SAMD9, SBDS, SC5D, SEC24D, SEDL, SEMA3E, SERPINF1, SERPINH1, SETBP1, SF3B4, (SGSH), SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC17A5, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLC9A3R1, SLCO2A1, SLCO5A1, SMAD1, SMAD4, SMAD5, (SMAD8), SMAD9, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SNX10, SOST, SOX9, SP7, SP8, SP9, SULF1, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBXAS1, TCIRG1, TCOF1, TCTN3, TFAP2A, TFAP2B, TGFB1, TGFBR1, TGFBR2, THPO, TMEM216, TMEM216, TMEM38B, TMEM67, (TNFRSF11A), (TNFRSF11B), (TNFSF11), TP63, (TRAPPC2), TREM2, TRIM32, TRIP11, TRPS1, TRPV4, TTC21B, TTC8, TWIST1, TWIST2, TXNIP, TYROBP, VC, WDR19, WDR34, WDR35, (WDR56), WDR60, WISP3, WNT1, WNT10A, WNT10B, WNT2b, WNT3, WNT5A, WNT7A, WNT8A, WNT8B, XRCC4, (XRCC9), XYLT1, ZBTB16, ZBTB16, ZMPSTE24, (ZRS)
Kontaktní osoba: Mgr. Petra Tvrdá, Mgr. Martina Paprskářová
Vzácná onemocnění, 525 genů
A2ML1, AAAS, ABL1, ACAN, ACTB, ACTG1, ACVR1, ACVRL1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADGRG2, AEBP1, AFF4, AGGF1, AIRE, AKR1C2, AKR1C4, AKT1, AKT2, ALX1, ALX3, ALX4, ANAPC1, ANKRD11, ANOS1, ANTXR2, APC2, AR, ARHGAP31, ARID1A, ARID1B, ARID2, ARSL, ARX, ASCC1, ASCL1, ASXL1, ASXL2, ASXL3, ATP7B, ATR, ATRIP, B3GALT6, B3GALTL, B3GAT3, B4GALT7, BHLHA9, BICD2, BMP2, BMP4, BMPR1B, BRAF, BRD4, BRWD3, BTK, BTRC, C1R, C1S, CANT1, CASR, CBL, CBX2, CCDC141, CCDC8, CD96, CDC45, CDC6, CDH3, CDK5, CDKL5, CDKN1C, CDON, CDT1, CENPE, CENPJ, CEP120, CEP152, CEP63, CFTR, CHD7, CHD8, CHST14, CHST3, CHSY1, CKAP2L, CNOT1, CNTNAP2, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CREBBP, CUL4B, CUL7, CYP11A1, CYP11B1, CYP17A1, CYP26B1, DCAF17, DCX, DDR2, DHCR24, DHCR7, DHH, DIS3L2, DISP1, DLL1, DLL4, DLX3, DLX4, DLX5, DLX6, DNA2, DNM2, DNMT3A, DOCK6, DOK7, DPF2, DSE, DUSP6, DVL1, DVL3, DYNC1H1, DYNC2H1, DYNC2LI1, ECE1, ECEL1, EDN3, EDNRB, EED, EFNB1, ENG, EOGT, EP300, EPHB4, EPS15L1, ERF, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EZH2, FBLN1, FBN1, FBN2, FEZF1, FGD1, FGF10, FGF16, FGF17, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FKBP14, FLNA, FLNB, FLRT3, FLT4, FOXC2, FOXG1, FOXH1, FREM1, FSHB, FTH1, FZD2, GABBR2, GAS1, GDF2, GDF3, GDF5, GDF6, GDNF, GH1, GHR, GHRH, GHRHR, GHSR, GJA1, GJB2, GJC2, GLE1, GLI1, GLI2, GLI3, GMNN, GNAS, GNRH1, GNRHR, GPC3, GPC4, GPC6, GRHL3, GZF1, HAMP, HDAC4, HDAC8, HESX1, HFE, HIST1H1E, HJV, HMGA2, HOXD13, HRAS, HS6ST1, HSD3B2, IDH1, IDH2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IGF1, IGF1R, IGF2, IHH, IL17RD, IQCE, IQSEC2, IRF6, JAG1, KAT6B, KATNB1, KCTD1, KDM6A, KIAA0586, KIF22, KIFBP, KISS1, KISS1R, KITLG, KLB, KLHL7, KMT2A, KMT2D, KRAS, L1CAM, LAMB1, LGI4, LHB, LHCGR, LHX3, LHX4, LIFR, LIG4, LMBR1, LMX1B, LOXL3, LRP2, LRP4, LTBP2, LTBP3, LZTR1, MACF1, MAGEL2, MAMLD1, MAP2K1, MAP2K2, MAP3K1, MASP1, MATN3, MAU2, MC2R, MCM5, MECP2, MED12, MEFV, MEGF8, MEIS2, MEOX1, MID1, MMP13, MRAP, MRAS, MSX1, MSX2, MTOR, MUSK, MVK, MYBPC1, MYH3, MYH8, MYO18B, MYOD1, MYT1, NALCN, NBN, NDE1, NECTIN1, NEK1, NEK9, NF1, NF2, NFIB, NFIX, NIN, NIPBL, NNT, NODAL, NOG, NOTCH1, NOTCH2, NR0B1, NR5A1, NRAS, NRTN, NRXN1, NSD1, NSMCE2, NSMF, NSUN2, NTNG1, NUP88, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OTX2, P4HA1, PAFAH1B1, PAH, PAPSS2, PCNT, PDE3A, PDGFRB, PGAP2, PGAP3, PHF6, PHOX2B, PIEZO1, PIEZO2, PIGL, PIGO, PIGV, PIGW, PIGY, PIK3CA, PIK3R1, PITX1, PITX2, PLAG1, PLK4, PLOD1, POLR1C, POLR1D, POMT1, POMT2, POR, POU1F1, PPP1CB, PRKAR1A, PRMT7, PROK2, PROKR2, PROP1, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RAB23, RAD21, RAF1, RAI1, RAP1A, RAP1B, RAPSN, RASA1, RASA2, RASA3, RBBP8, RBM8A, RBPJ, RECQL4, RELN, RET, RIT1, RLIM, RNF125, RNF135, RNPC3, ROR2, RPS6KA3, RRAS, RRAS2, RTEL1, RUNX2, SALL4, SAMD9, SC5D, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA7A, SETD2, SETD5, SGPL1, SHH, SHOC2, SHOX, SIX3, SKI, SLC18A3, SLC26A2, SLC29A3, SLC39A13, SLC40A1, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMO, SMPD4, SOS1, SOS2, SOST, SOX10, SOX11, SOX18, SOX2, SOX3, SOX4, SOX9, SPECC1L, SPRED1, SPRY4, SRCAP, SRY, STAG2, STAR, STXBP1, SUFU, SUMO1, TAC3, TACR3, TBC1D24, TBCK, TBX1, TBX15, TBX19, TBX2, TBX5, TCF12, TCF4, TCOF1, TCTEX1D2, TCTN3, TDGF1, TFAP2A, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TMTC3, TNNI2, TNNT3, TNXB, TOR1A, TP63, TPM2, TRAIP, TRIP11, TRPS1, TRPV4, TTC21B, TUBA1A, TWIST1, UBE3A, UGT1A1, UNC80, VEGFC, VIPAS39, VPS13B, VPS33B, WDPCP, WDR11, WDR19, WDR34, WDR35, WDR60, WNT10B, WNT4, WNT5A, WNT7A, WT1, YWHAE, ZEB2, ZFPM2, ZIC1, ZIC2, ZNF141, ZSWIM6.
Kontaktní osoba: Ing. Petra Cibulková, MBA
Wilsonova choroba
ATP7B, CP
Kontaktní osoba: Mgr. Jarmila Valečková, Mgr. Hana Uhlíková, Ph.D.

Upozornění: Za správnost údajů odpovídá pracoviště, které je do databáze nahlásilo.