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

Molekulárně-genetická laboratoř

NázevLaboratoře AGEL a. s.
OdděleníOddělení lékařské genetiky - laboratoř molekulární biologie
IČO16628373
AdresaRevoluční 2214/35
Nový Jičín
74101
Telefon556 416 234, 556 416 232
Fax
Web https://www.agellab.cz/
E-mailspiros.tavandzis@lab.agel.cz
Kontaktní osobaMgr. Spiros Tavandzis, Ing. Arpád Bóday
Akreditace ČIA8003
Poznámky
Poslední aktualizace:23. června 2020
ID pro editaci:MG59

Prováděná vyšetření

Název Gen MIM OrphaCode EQA REF
Defekt apoliproproteinu E APOE 107741
Mgr. Uhliaríková
Sy. Gilbert UGT1A1 143500
Ing. Bóday
Onkogenéza BRCA1 BRCA1 113705
Mgr. Roszková, Mgr. Tavandzis
Glykoprotein IIIa (trombocytopenie) GP3A 173470
Ing. Bóday
Def. faktoru II, protrombinu, 20210G-A polymorfismus F2 176930
Ing. Bóday
Def. faktoru XIII (koagulace, stabilita fibrinu) F113A1 134570
Ing. Bóday
Thiopurin S-metyltransferáza TPMT 187680
Mgr. Tavandzis
Faktor 5 Leiden G1691A 188055
Ing. Bóday
Cytochrom P450, polypeptid 2C9 CYP2C9 601130
Mgr. Tavandzis
Ankylosující spondylitida HLA-B27 106300
Ing. Bóday
Beta-fibrinogen (FGB) FGB 134830
Mgr. Uhliaríková
Hemochromatóza HFE 235200
Ing. Bóday
Wilsonova choroba (WD) ATP7B 277900
Mgr. Slavíková
Beals syndrom FBN2 612570
Mgr. Slavíková, Ing Mgr Jašková
Hluchota (nesyndromální) - DFNB1 GJB2 220290
Mgr. Slavíková, Ing Mgr Jašková
Sy. Crigler-Najjar I UGT1A1 218800
Ing. Bóday
Sy. Crigler-Najjar II UGT1A1 606785
Ing. Bóday
Vitamín K epoxid reduktázový komplex, podjednotka 1 VKORC1 608547
Mgr. Tavandzis
Dilatační kardiomyopatie LMNA 150330
Mgr. Slavíková, Mgr. Crhová
Mikrosatelitová instabilita, nádory GIT (karcinom kolorekta, žaludku) - markery D2S123, D5S346, D17S250, BAT25, BAT26, BAT40 900029
Ing. Bóday
Hereditární nepolyposní karc. tl. střeva MLH1 609310
Mgr. Roszková, Mgr. Tavandzis
Familiární maligní melanom CDKN2A 600160
Mgr. Roszková, Mgr. Tavandzis
Onkogenéza BRAF (melanom, kolorektální karcinom, papilární karcinom štítné žlázy) BRAF 164757
Ing. Bóday
Onkogenéza - NRAS NRAS 164790
Ing. Bóday
Onkogenéza K-RAS KRAS2 190070
Ing. Bóday
Ectopia lentis AR ADAMTSL4 225100
Mgr. Slavíková, Ing. Mgr. Jašková
Hereditární nádor prsu CHEK2 604373
Mgr. Roszková, Mgr. Tavandzis
Onkogenéza PIK3CA PIK3CA 171834
Mgr. Havranová
Onkogenéza BRCA2 BRCA2 600185
Mgr. Roszková, Mgr. Tavandzis
Familiární hypercholesterolemie typu B, Familiární defekt apolipoproteinu B-100 (FDB) APOB 144010
Mgr. Uhliaríková
Mnohočetná endokrinní neoplazie typ 1 MEN1 131100
Mgr. Roszková, Mgr. Tavandzis
Gastrointestinální stromální tumory (mut.c-kit) KIT 164920
Mgr. Tavandzis
Hypertrofické kardiomyopatie 14q12, 1q32 160760
Mgr. Slavíková, Mgr. Crhová
Hereditární rakovina žaludku CDH1 192090
Mgr. Roszková, Mgr. Tavandzis
Sy Li-Fraumeni, LFS TP53 191170
Mgr. Roszková, Mgr. Tavandzis
Klonalita IgH IGHV 147070
Mgr. Roszková, Mgr. Crhová
Adenomatózní polypóza tl. střeva APC 175100
Mgr. Roszková, Mgr. Tavandzis
Fam. hypercholesterolemie (FH) LDLR 143890
Mgr. Uhliaríková
Hereditární nepolyposní karcinom tlustého střeva (Sy.Lynch) MSH6 600678
Mgr. Roszková, Mgr. Tavandzis
Hereditární nepolyposní karc. tl. střeva, (Sy. Lynch ) MSH2 120435
Mgr. Roszková, Mgr. Tavandzis
Sy. Cowden, CD, Sz Bannayan-Riley-Ruvacalba, BRRS PTEN 158350
Mgr. Roszková, Mgr. Tavandzis
Hereditární pankreatitida PRSS1, PRSS1, SPINK1, CFTR 167800
Mgr. Slavíková
Faktor 5 Leiden G1691A 188055
Ing. Bóday
Sy. Marfan (MFS2) TGFBR2 154705
Mgr. Slavíková, Ing Mgr Jašková
Celiakální sprue CD 212750
Mgr. Uhliaríková, Ing. Bóday
Onkogenéza (CML,ALL,AML)-BCR/ABL BCR/ABL 608232
Mgr. Crhová
Janusova kináza 2 , V617F mut.(Myeloproliferace s erytrocytózou) JAK2 147796
Mgr. Crhová
Def. alfa-1-antitrypsinu SERPINA1 107400
Mgr. Uhliaríková
Sy. Marfan, typ 2 (MFS2) TGFBR1 190181
Mgr. Slavíková, Ing Mgr Jašková
Sy. Marfan (MFS1) FBN1 154700
Mgr. Slavíková, Ing Mgr Jašková
Loeys-Dietz syndrome TGRBR1 610380
Mgr. Slavíková, Ing Mgr Jašková

NGS panely

Ciliopatie
ACVR2B, ARHGEF18, ARMC4, ATR, C21orf59, C2orf71, CAVIN4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCM2, CCNO, CELSR2, CEP290, CEP83, CFAP53, CFC1, CFC1B, CFTR, CLRN1, CRB1, CRELD1, CRX, DAW1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH3, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, EXOC3L2, FAM98C, FOXH1, FURIN, GATA6, GDF1, GJA1, GUCY2D, HYDIN, IFT122, IFT43, IMPDH1, IQCB1, KCNJ13, KIAA0556, KIF3B, LCA5, LEFTY2, LRAT, LRRC6, LRRCC1, MCIDAS, MEGF8, MMP21, MYO7A, NAT1, NEK1, NEK4, NKX2-5, NME8, NODAL, PCDH15, PCNT, PCSK5, PIH1D3, PKD1L1, PLK4, PLXND1, POC1A, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SHROOM3, TMEM127, TMEM256, TOPORS, TRAPPC3, TULP1, TXNDC15, USH1C, USH1G, USH2A, UTRN, VHL, WDR35, WDR72, WDR73, WHRN, ZIC3, ZMYND10
Kontaktní osoba: Ing. Bóday, Mgr. Uhliaríková
Familární hypercholesterolémie
ABCG5, ABCG8, APOA5, APOB, APOC2, APOC3, APOE, ATP7B, CETP, CREB3L3, GJB2, GJB3, GJB6, LDLR, LDLRAP1, LPL, PCSK9
Kontaktní osoba: Ing. Bóday, Mgr. Uhliaríková
Hereditární nádorové syndromy (CZECANCA v1.1)
ABRAXAS1, ABRAXAS2, AIP, ALK, APC, APEX1, ATM, ATMIN, ATR, ATRIP, AURKA, AXIN1, BABAM1, BABAM2, BAP1, BARD1, BLM, BMPR1A, BRAP, BRCA1, BRCA2, BRCC3, BRIP1, BUB1B, CASP8, CCND1, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK1, CHEK2, CLSPN, CSNK1D, CSNK1E, CWF19L2, CYLD, DCLRE1C, DDB2, DHFR, DICER1, DIS3L2, DMBT1, DMC1, DNAJC21, DPYD, EGFR, EMSY, EPCAM, EPHX1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ESR1, ESR2, EXO1, EXT1, EXT2, EYA2, EZH2, FAAP24, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBXW7, FH, FLCN, GADD45A, GATA2, GPC3, GRB7, HELQ, HNF1A, HOXB13, HRAS, HUS1, KAT5, KCNJ5, KIT, LIG1, LIG3, LIG4, LMO1, LRIG1, MAX, MCPH1, MDC1, MDM2, MDM4, MEN1, MET, MGMT, MLH1, MLH3, MMP8, MPL, MRE11, MSH2, MSH3, MSH5, MSH6, MSR1, MUS81, MUTYH, NAT1, NBN, NCAM1, NELFB, NF1, NF2, NFKBIZ, NHEJ1, NSD1, OGG1, PALB2, PARP1, PCNA, PHB, PHOX2B, PIK3CG, PLA2G2A, PMS1, PMS2, POLB, POLD1, POLE, PPM1D, PREX2, PRF1, PRKAR1A, PRKDC, PTCH1, PTEN, PTTG2, RAD1, RAD17, RAD18, RAD23B, RAD50, RAD51, RAD51AP1, RAD51B, RAD51C, RAD51D, RAD52, RAD54B, RAD54L, RAD9A, RB1, RBBP8, RECQL, RECQL4, RECQL5, RET, RFC1, RFC2, RFC4, RHBDF2, RNF146, RNF168, RNF8, RPA1, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SETBP1, SETX, SHPRH, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TCL1A, TELO2, TERF2, TERT, TLR2, TLR4, TMEM127, TOPBP1, TP53, TP53BP1, TSC1, TSC2, TSHR, UBE2A, UBE2B, UBE2I, UBE2V2, UBE4B, UIMC1, VHL, WRN, WT1, XPA, XPC, XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XRCC6, ZNF350, ZNF365
Kontaktní osoba: Mgr. Roszková, Mgr. Tavandzis
Kardiogenetika
A2ML1, ABCA7, ABCC9, ABCC9, ABCC9, ACTC1, ACTN2, AKAP9, AKAP9, ALMS1, ALPK3, ANK2, ANK2, ANKRD1, APOA1, APOA1, APOA2, APOB, APOC2, APOC3, APOE, APOE, APP, APP, APP, B2M, BAG3, BRAF, BRAF, CACNA1C, CACNA1C, CACNA1C, CACNA1C, CACNA2D1, CACNB2, CACNB2, CACNB2, CACNB2, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, CRYAB, CSRP3, CST3, CST3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSC2, DSG2, DSP, DTNA, EMD, EPG5, EYA4, FGA, FGA, FGF12, FGF12, FHL1, FHL2, FHOD3, FKTN, FKTN, FLNC, GATA4, GATA4, GATA5, GATA6, GATAD1, GJA5, GJA5, GLA, GPD1L, GSN, GSN, GSN, GSN, GSN, HAND1, HCN4, HRAS, HRAS, ILK, JPH2, JUP, KAT6B, KAT6B, KCN1E, KCN1Q, KCN1Q, KCNA5, KCND2, KCND3, KCNE1, (KCNE1L), KCNE2, KCNE3, KCNE5, KCNH2, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KRAS, KRAS, LAMA4, LAMA4, LAMP2, LAMP2, LAMP2, LAMP2, LDB3, LMNA, LMNA, LMNA, LMNA, LYZ, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MRAS, (MURC), MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, MYPN, NCOA6, NCOA6, NEBL, NEBL, NEXN, NKX2-5, NKX2-6, NOS1AP, NPPA, NRAS, NUP155, NUP155, OBSCN, OBSCN, OBSCN, PDLIM3, PDLIM3, PKP2, PLN, PPA2, PPA2, PRDM16, PRKAG2, PRKAG2, PRKAG2, PSEN1, PSEN1, PSEN2, PSEN2, PTPN11, RAF1, RAF1, RANGRF, RANGRF, RASA2, RBM20, RIT1, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN1B, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN5A, SDHA, SEMA3A, SGCD, SLMAP, SLMAP, SNTA1, SORL1, SOS1, SOS2, SYNE2, SYNE2, TAF1A, TAZ, TBX20, TCAP, TECRL, TGFB3, TMEM43, TMPO, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNNT2, TOMM40, TOMM40, TPM1, TPM1, TPM1, TPM1, TPM1, TPM1, TPM1, TPM1, TRDN, TRDN, TREM2, TRIM54, TRIM55, TRIM55, TRIM63, TRPM4, TTN, TTR, TXNRD2, TXNRD2, VCL
Kontaktní osoba: Mgr. Slavíková, Mgr. Crhová
Nesyndromová hluchota
ACTG1, ADCY1, ATP2B2, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, (COMT2), CRYM, DCDC2, (DFNA31), (DFNA48), (DFNA5), (DFNA51), (DFNA52), (DFNB31), (DFNB59), DIABLO, DIAPH1, DMXL2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA4, (FAM65B), GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PJVK, (PMCA2), PNPT1, POU4F3, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, (SMAC), STRC, SYNE4, TBC1D24, TECTA, (TFCP2L3), TJP2, TMC1, TMEM132E, (TMHS), TMIE, TMPRSS3, TNC, TPRN, (TRIC), TRIOBP, TSPEAR, USH1C, WBP2, WFS1, WHRN
Kontaktní osoba: Mgr. Tavandzis, Ing. Mgr. Jašková
Onemocnění a vady očí
ABCA1, ABCA4, ABCB6, ABHD12, ABHD5, ACBD5, ACO2, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADGRV1(GPR98, AGBL1, AGBL5, AGK, AHI1, AIPL1, ALDH1A3, ALMS1, AP3B1, AP3D1, APC, ARHGEF18, ARL2BP, ARL6, ARR3, ASB10, ATF6, ATOH7, ATP1A2, B3GALNT2, B3GLCT, B3GNT1(B4GAT1), BBS1, BBS2, BCOR, BDNF, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C12orf57, C1QTNF5, C21orf2, C8orf37, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CAPN5, CCDC111(PRIMPOL), CDH23(USH1D), CDH3, CDHR1, CEP290, CEP78, CERKL, CFH, CFI, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2(USH1J, CISD2, CLN3, CLRN1(USH3A), CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL25A1, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, COX7B, CPAMD8, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTC1, CTNNA1, CTNNB1, CTPP), CX3CR1, CYP1B1, CYP4V2, DAG1, DCN, DFNB31), DHDDS, DNM1L, DRAM2, DTNBP1, EDNRB, EFEMP1, ELOVL4, ELP4, EPHA2(ARCC2, EYA1, EYS, FAM126A, FAM161A, FBLN5, FBN1, FBN2, FKRP, FKTN, FLVCR1, FOXC1, FOXE3, FRMD7, FSCN2, FTL, FYCO1, FZD4, FZD5, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLIS3, GMPPB, GNAT1, GNAT2, GNB3, GPR143, GPR179, GRHL2, GRK1, GRM6, GSN, GUCA1A, GUCA1B, GUCY1A1, GUCY2D, GZF1, HARS(USH3B), HCCS, HGSNAT, HK1, HMCN1, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HS6ST2, HSF4, HTRA1, IDH3B, IFT140, IFT172, IFT27, IFT43, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, ISPD, ITPR1, JAG1, KCNJ13, KCNV2, KERA, KIF11, KIP2), KITLG, KIZ, KLHL7, KRT12, KRT3, LARGE(LARGE1), LCA5(C6ORF152), LEMD2, LIM2, LMX1B, LOXL1, LRAT, LRIT3, LRMDA(C10orf11), LRP5, LRPAP1, LSS, LTBP2, LYST, MAB21L2, MAF, MAFB, MAK, MC1R, MERTK, MFRP, MIP(AQP0), MITF, MSTO1, MTPAP, MVK, MYO7A(USH1B), MYOC, NAA10, NDP, NDUFB11, NDUFS1, NEK2, NHS, NMNAT1, NOTCH2, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OTX2, OVOL2, P3H2(LEPREL1), P4HA2, PAX2, PAX3, PAX6, PCARE(C2orf71), PCDH15(USH1F), PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX26, PEX7, PHYH, PIK3R1, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PMM2, POC1B, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PRCD, PRDM13, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2(RDS), PRPS1, PRSS56, PXDN, RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2(RAXL1), RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO(OPN2), RIMS1, RLBP1(CRALBP), ROM1, RP1, RP1L1, RP2, RP9(PAP1), RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SALL2, SALL4, SCAPER, SCO2, SDCCAG8, SEMA4A, SH3PXD2B, SHH, SIPA1L3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A4, SLC38A8, SLC39A5, SLC45A2(MATP), SLC4A11, SLC7A14, SLITRK6, SMOC1, SNAI2, SNRNP200, SNX3(MCOPS8), SOX1, SOX10, SOX2, SPATA7, SRD5A3, STRA6, TACSTD2, TBC1D20, TCF4, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFBI, TIMP3, TINF2, TMEM126A, TMEM5(RXYLT1), TMEM98, TOPORS, TRIM44, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBIAD1, UNC119, UNC45B, USH1C(PDZ73), USH1G(SANS), USH2A, USH2B), VAX1, VCAN, VIM, VSX1, VSX2(CHX10), WDR36, WFS1, WHRN(USH2D, WT1, XYLT2, YAP1, YME1L1, ZEB1, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644
Kontaktní osoba: Mgr. Staňková, Mgr. Gazdová
Onemocnění ledvin
ABCA3, ABCB11, ABCB4, ABCC6, ABCC9, ACE, ACTN4, ACVRL1, ADAMTS13, ADD3, AGT, AGTR1, AGTR2, AGXT, AHI1, ALMS1, ANKS6, ANLN, ANOS1/KAL1, APOL1, AQP2, AR, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC9, ATP1A2, ATP6AP2, ATP6V0A4, ATP6V1B1, ATP7B, ATP8B1, AVPR2, B9D1/JBTS27/B9/MKS9, B9D2, BAG6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BMP7, BMPR1B, BMPR2, BOLA3, BRAF, BSND, C3, C5orf42, c8orf37, C9orf72, CA2, CACNA1A, CASR, CAT, CAV1, CBLN2, CC2D2A, CCDC28B, CD2AP, CD46/MCP, CDC5L, CDC73, CENPF, CEP104, CEP120, CEP164, CEP290/NPHP6, CEP41, CEP83, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, CHD1L, CHRM3, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ8B, CRB2, CSPP1, CTC1, CTNNBIP1, CTNS, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP3A5, DACT1, DCDC2, DGKE, DMP1, DSTYK, DZIP1L, EGF, EHHADH, EIF2AK4, ELMOD2, EMP2, EMX2, ENG, ENPP1, EYA1, FAM111A, FGF20, FGF23, FGF8, FGF9, FN1, FOXC1, FOXE1, FRAS1, FREM1, FREM2, FXYD2, G6PC, GALNT3, GANAB, GATA3, GBE1, GDNF, GLIS2/NPHP7, GLIS3, GNB3, GOSR2, GREB1L, GREM1, GRHPR, GRIP1, HNF1B, HNF4A, HSD11B2, HTRA1, HYLS1, IFT140, IFT172, IFT27, IFT74/CCDC2, IFT80, ILK, INF2/C14ORF173, INPP5E, INVS/NPHP2, IQCB1/NPHP5, ITGA8, KCNA1, KCNA5, KCNJ1, KCNJ10, KCNJ5, KCNK3, KIAA0556/KATNIP, KIAA0586, KIAA0753, /KIAA1772/C18ORF6, KIF14, KIF7, KL, KLHL3, KRIT1, LAMB2, LIN7C, LRP4, LZTFL1/BBS17, MAGED2, MAPKBP1, MEN1, MEX3C, MKKS, MKS1, MUC1, MUC5B, MYH9, MYO1E, MYOG, NCF1, NEK8/NPHP9, NFU1, NKX2-1, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR1H4, NR3C2, NUP107, NUP205, NUP93, OCRL, OFD1, PAX2, PAX8, PCBD1, PDCD10, PDE2A, PDE3A, PDE6D, PHEX, PIBF1, PKD1, PKD2, PKHD1, PLCE1, PNPLA6, PNPLA6, PRKCSH, PTPRO, REN, RET, ROBO2, RPGRIP1L/NPHP8, SALL1, SCARB2, SCN1A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC63, SFTPA1, SFTPB, SFTPC, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC26A4, SLC34A1, SLC34A3, SLC37A4, SLC3A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMAD4, SMAD9, SMARCAL1, SPRY2, TAC3, TBX18, TCTN1/TECT1, TCTN2, TCTN3, TH, THBD, THRA, THRB, TJP2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TRPC6, TRPM6, TRPM8, TSC2, TSHR, TTC21B, TTC8, TTF1, ULK4, UMOD, UPK3A, USF2, WDPCP/C2ORF86, WDR19, WDR34, WDR60, WNK1, WNK4, WNT4, WT1, XDH, XPNPEP3, ZNF423
Kontaktní osoba: Ing. Bóday, Mgr. Uhliaríková
Onemocnění pojivových tkání
ACE, ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, ALDH18A1, APC2, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, B3GALT6, B4GALT7, BMP1, C1R, C1S, CARD14, CBS, CETP, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, CREB3L1, CRTAP, DSE, EDNRA, EFEMP2(FBLN4), ELN, ENG, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLNA, GATA5, GJB2, GJB3, GJB6, GORAB, GUCY1A1(GUCY1A3), IFITM5, LEPRE1(P3H1), LOX, LOXL2, LTBP2, LTBP4, MAT2A, MED12, MFAP5, MMP2, MYH11, MYLK, NFIX, NOD2, NOTCH1, NSD1, P4HA1, PCSK9, PKD1, PKD2, PLOD1, PLOD2, PLS3, PPIB, PRDM5, PRKG1, PYCR1, RIN2, RNF213, SERPINF1, SERPINH1, SETD2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6, SP7, SPARC, STAT1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, TMEM38B, TNF, TNFRSF13B, TNXB, WNT1, ZNF469
Kontaktní osoba: Mgr. Slavíková, Mgr. Jašková
Vzácná onemocnění
ACD, ACVR1, ACVRL1, ADAMTSL4, AFF4, AGGF1, AKT1, AKT2, AKT3, ALMS1, ALX4, ANK1, ANKRD11, ANOS1, ANTXR2, APC2, ARHGAP31, ARID1A, ARID1B, ARID2, ARNT2, ARX, ASCL1, ASXL1, ASXL3, ATP7B, ATR, ATRIP, B3GALT6, BMP2, BMPR1B, BMS1, BRAF, BRD4, BTRC, CASR, CCDC141, CCND2, CD96, CDH23(USH1D), CDH3, CDKL5, CDKN1C, CENPE, CENPJ, CEP120, CEP152, CEP63, CFTR, CHD7, CIB2(USH1J, CLRN1(USH3A), CNTNAP2, COL11A1, COL11A2, COL17A1, COL2A1, COL7A1, COL9A1, COL9A2, COMP, CREBBP, CSPP1, CTC1, CTRC, CYP17A1, DCX, DEAF1, DFNB31), DFNB31), DHCR24, DHCR7, DIS3L2, DKC1, DLL4, DLX5, DLX6, DNA2, DNM2, DNMT3A, DOCK6, DOK7, DUSP6, DYNC2H1, DYNC2LI1, ECE1, ECEL1, EDN3, EDNRB, EED, EFNB1, ENG, EOGT, EP300, EPB42, EPS15L1, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EYA1, EZH2, FBLN1, FBN1, FBN2, FEZF1, FGD1, FGF16, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLII, FLNB, FLRT3, FOXG1, FREM1, FSHB, GABBR2, GATA1, GDF2, GDF3, GDF5, GDF6, GDNF, GJA1, GLI1, GLI2, GLI3, GNAS, GNRH1, GNRHR, GPC3, GPC4, GPR98(ADGRV1, H19, HARS(USH3B), HDAC8, HESX1, HOXD13, HRAS, HS6ST1, HSD3B2, IDH1, IDH2, IFNG, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IGF1, IGF2, IHH, IKBKG, IL17RD, IQCE, IQSEC2, ITGA6, ITGB4, JAG1, KAT6B, KCNQ1, KCNQ1OT1, KCTD1, KDM6A, KIAA0586, KIF2A, KIF5C, KIP2), KISS1, KISS1R, KITLG, KLHL7, KMT2A, KMT2D, KRAS, KRT14, KRT5, LAMA3, LAMB3, LAMC2, LHB, LHX3, LHX4, LIG4, LMBR1, LMX1B, LZTR1, MAP2K1, MAP2K2, MAU2, MBD5, MCPH1, MECP2, MEFV, MEGF8, MEOX1, MID1, MITF, MSX2, MTOR, MUSK, MVK, MYBPC1, MYH3, MYH8, MYO18B, MYO7A(USH1B), MYOD1, NALCN, NBN, NEK1, NEK9, NF1, NF2, NFIX, NHP2, NIN, NIPBL, NOG, NOP10, NOTCH1, NOTCH2, NR0B1, NRAS, NRTN, NRXN1, NSD1, NSMCE2, NSMF, NSUN2, NTNG1, OFD1, OTX2, PAFAH1B1, PAH, PARN, PAX3, PCDH15(USH1F), PCNT, PDGFRB, PDZD7, PHOX2B, PIEZO2, PIGA, PIGN, PIK3CA, PIK3R2, PLK4, POLR1C, POLR1D, POR, POU1F1, PPP1CB, PRF1, PRKAR1A, PROK2, PROKR2, PROP1, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RAB23, RAD21, RAF1, RAI1, RAP1A, RAP1B, RAPSN, RASA1, RBBP8, RBM8A, RBPJ, RECQL4, RELN, RET, RIT1, RNF135, ROR2, RPL11, RPL15, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RTEL1, SALL4, SBDS, SC5D, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SETD2, SETD5, SHH, SHOC2, SHOX, SIX1, SIX5, SLC26A2, SLC4A1, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAI2, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SPECC1L, SPINK1, SPRED1, SPRY4, SPTA1, SPTB, SRCAP, SUFU, TAC3, TACR3, TBX1, TBX5, TCF12, TCF4, TCOF1, TCTEX1D2, TCTN3, TERC, TERT, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TINF2, TNNI2, TNNT3, TP63, TPM2, TRAIP, TRIP11, TSR2, TTC21B, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TWIST1, TYR, UBE3A, UGT1A1, USB1, USH1C(PDZ73), USH1G(SANS), USH2A, USH2B), VPS13B, WAPL, WDR11, WDR19, WDR34, WDR35, WDR60, WHRN(USH2D, WHRN(USH2D, WNT10B, WNT7A, WRAP53, YWHAE, ZEB2, ZIC1, ZNF141
Kontaktní osoba: Mgr. Havranová, Mgr. Tavandzis

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