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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 416 232,556 416 234
Fax
Web https://www.agellab.cz/
E-mailpetra.cibulkova@lab.agel.cz
Kontaktní osobaIng. Petra Cibulková, MBA; Ing. Arpád Bóday
Akreditace ČIA8003
Poznámky
Poslední aktualizace:29. března 2019
ID pro editaci:MG59

Prováděná vyšetření

Název Gen MIM OrphaCode EQA REF
Defekt apoliproproteinu E APOE 107741
Mgr. Křenková
Sklerodermie CTGF 181750
Mgr. Indráková
Inhibitor aktivátoru plazminogenu (PAI-1) PAI1 173360
Mgr. Křenková
Sy. Gilbert UGT1A1 143500
Ing. Bóday
Onkogenéza BRCA1 BRCA1 113705
Mgr. Tavandzis
Def. faktoru II, protrombinu, 20210G-A polymorfismus F2 176930
Mgr. Křenková
Def. faktoru XIII (koagulace, stabilita fibrinu) F113A1 134570
Mgr. Křenková
Onkogenéza (CML,ALL,AML)-BCR/ABL BCR/ABL 608232
Ing. Sítková
Thiopurin S-metyltransferáza TPMT 187680
Mgr. Tavandzis
Glykoprotein IIIa (trombocytopenie) GP3A 173470
Mgr. Křenková
Faktor 5 Leiden G1691A 188055
Mgr. Křenková
Janusova kináza 2 , V617F mut.(Myeloproliferace s erytrocytózou) JAK2 147796
Ing. Sítková
Beals syndrom FBN2 612570
Mgr. Křenková, Ing. Sítková
Cytochrom P450, polypeptid 2C9 CYP2C9 601130
Mgr. Tavandzis
Ankylosující spondylitida HLA-B27 106300
Mgr. Křenková
Beta-fibrinogen (FGB) FGB 134830
Mgr. Křenková
Def. alfa-1-antitrypsinu SERPINA1 107400
Mgr. Křenková
Hemochromatóza HFE 235200
Mgr. Křenková
Hluchota (nesyndromální) - DFNB1 GJB2 220290
RNDr. Kolaříková
Wilsonova choroba (WD) ATP7B 277900
RNDr. Pospíšilová, Ph.D.
Sy. Crigler-Najjar I UGT1A1 218800
Ing. Bóday
Sy. Crigler-Najjar II UGT1A1 606785
Ing. Bóday
Sy. Marfan (MFS1) FBN1 154700
Mgr. Křenková, Ing. Sítková
Vitamín K epoxid reduktázový komplex, podjednotka 1 VKORC1 608547
Mgr. Tavandzis
Hereditární nepolyposní karc. tl. střeva MLH1 609310
Mgr. Indráková, Ing. Sítková
Familiární maligní melanom CDKN2A 600160
Mgr. Indráková, Ing. Sítková
Onkogenéza K-RAS KRAS2 190070
Ing. Bóday
Onkogenéza - NRAS NRAS 164790
Ing. Bóday
Onkogenéza BRAF (melanom, kolorektální karcinom, papilární karcinom štítné žlázy) BRAF 164757
Ing. Bóday
Dilatační kardiomyopatie LMNA 150330
Mgr. Vaníčková
Ectopia lentis AR ADAMTSL4 225100
Mgr. Křenková, Ing. Sítková
Mikrosatelitová instabilita, nádory GIT (karcinom kolorekta, žaludku) - markery D2S123, D5S346, D17S250, BAT25, BAT26, BAT40 900029
Ing. Bóday
Homocystinurie z deficitu methylentetrahydrofolátreduktázy MTHFR 607093
Mgr. Křenková
Onkogenéza PIK3CA PIK3CA 171834
RNDr. Pospíšilová, Ph.D.
Onkogenéza BRCA2 BRCA2 600185
Mgr. Tavandzis
Hereditární nádor prsu CHEK2 604373
Mgr. Tavandzis
Familiární hypercholesterolemie typu B, Familiární defekt apolipoproteinu B-100 (FDB) APOB 144010
Mgr. Křenková
Mnohočetná endokrinní neoplazie typ 1 MEN1 131100
Mgr. Indráková, Ing. Sítková
Gastrointestinální stromální tumory (mut.c-kit) KIT 164920
Ing. Sítková
Hypertrofické kardiomyopatie 14q12, 1q32 160760
Mgr. Vaníčková
Hereditární rakovina žaludku CDH1 192090
Mgr. Indráková, Ing. Sítková
Klonalita IgH IGHV 147070
Ing. Sítková, Mgr. Dřímalová, Ph.D.
Sy Li-Fraumeni, LFS TP53 191170
Mgr. Indráková, Ing. Sítková
Faktor VII FVII 227500
Mgr. Křenková
Adenomatózní polypóza tl. střeva APC 175100
Mgr. Indráková, Ing. Sítková
Hereditární nepolyposní karc. tl. střeva, (Sy. Lynch ) MSH2 120435
Mgr. Indráková, Ing. Sítková
Hereditární nepolyposní karcinom tlustého střeva (Sy.Lynch) MSH6 600678
Mgr. Indráková, Ing. Sítková
Sy. Marfan, typ 2 (MFS2) TGFBR1 190181
Mgr. Křenková, Ing. Sítková
Loeys-Dietz syndrome TGRBR1 610380
Mgr. Křenková, Ing. Sítková
Fam. hypercholesterolemie (FH) LDLR 143890
Mgr. Křenková
Narkolepsie HCRT 161400
Ing. Cibulková, MBA vyšetřujeme DQB1*06:02 - na 6p21
Sy. Cowden, CD, Sz Bannayan-Riley-Ruvacalba, BRRS PTEN 158350
Mgr. Indráková
Hereditární pankreatitida PRSS1, PRSS1, SPINK1, CFTR 167800
Ing. Sítková
Faktor 5 Leiden G1691A 188055
Mgr. Křenková
Sy. Marfan (MFS2) TGFBR2 154705
Mgr. Křenková, Ing. Sítková
Celiakální sprue CD 212750
RNDr. Kolaříková

NGS panely

Ciliopatie
ACVR2B, ARHGEF18, ARMC4, ATR, CAVIN4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCM2, CCNO, CELSR2, CEP290, CEP83, CFAP53, CFC1, CFC1B, CFTR, CLRN1, CRB1, CRELD1, CRX, C2orf71, C21orf59, 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, LRRCC1, LRRC6, MCIDAS, MEGF8, MMP21, MYO7A, NAT1, NEK1, NEK4, NKX2-5, NME8, NODAL, PCDH15, PCNT, PCSK5, PIH1D3, PKD1L1, PLK4, PLXND1, POC1A, RDH12, RD3, 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: Mgr. Indráková, Ing. Bóday
Familární hypercholesterolémie
ABCG5, ABCG8, APOA5, APOB, APOC2, APOC3, APOE, ATP7B, CETP, CREB3L3, GJB2, GJB3, GJB6, LDLR, LDLRAP1, LPL, PCSK9
Kontaktní osoba: Mgr. Indráková, Ing. Sítková
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, CDKN1B, CDKN1C, CDKN2A, CDK4, CEBPA, CEP57, 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, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAN1, FBXW7, FH, FLCN, GADD45A, GATA2, GPC3, GRB7, HELQ, HNF1A, HOXB13, HRAS, HUS1, CHEK1, CHEK2, 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, NFKBIZ, NF1, NF2, NHEJ1, NSD1, OGG1, PALB2, PARP1, PCNA, PHB, PHOX2B, PIK3CG, PLA2G2A, PMS1, PMS2, POLB, POLD1, POLE, PPM1D, PREX2, PRF1, PRKAR1A, PRKDC, PTEN, PTCH1, PTTG2, RAD1, RAD17, RAD18, RAD23B, RAD50, RAD51, RAD51AP1, RAD51B, RAD51C, RAD51D, RAD52, RAD54B, RAD54L, RAD9A, RBBP8, RB1, 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. Tavandzis, Mgr. Indráková
Kardiogenetika
ABCA7, ABCC9, ABCC9, ABCC9, ACTC1, ACTN2, AKAP9, AKAP9, ALMS1, ALPK3, ANKRD1, ANK2, ANK2, APOA1, APOA1, APOA2, APOB, APOC2, APOC3, APOE, APOE, APP, APP, APP, A2ML1, BAG3, BRAF, BRAF, B2M, CACNA1C, CACNA1C, CACNA1C, CACNA1C, CACNA2D1, CACNB2, CACNB2, CACNB2, CACNB2, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAVIN4, CAV3, CBL, CDH2, 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, GATAD1, GATA4, GATA4, GATA5, GATA6, GJA5, GJA5, GLA, GPD1L, GSN, GSN, GSN, GSN, GSN, HAND1, HCN4, HRAS, HRAS, CHRM2, ILK, JPH2, JUP, KAT6B, KAT6B, KCNA5, KCND2, KCND3, KCNE1, (KCNE1L), KCNE2, KCNE3, KCNE5, KCNH2, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KCN1E, KCN1Q, KCN1Q, 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, MYLK2, MYL2, MYL3, 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, SCN1B, SCN1B, SCN1B, SCN10A, 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. Vaníčková, Ing. Cibulková, MBA
Nesyndromová hluchota
ACTG1, ADCY1, ATP2B2, BDP1, BSND, CABP2, CCDC50, CDC14A, CDH23, CD164, 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, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, (PMCA2), PNPT1, POU4F3, PTPRQ, P2RX2, RDX, RIPOR2, ROR1, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, (SMAC), STRC, SYNE4, S1PR2, TBC1D24, TECTA, (TFCP2L3), TJP2, TMC1, TMEM132E, (TMHS), TMIE, TMPRSS3, TNC, TPRN, (TRIC), TRIOBP, TSPEAR, USH1C, WBP2, WFS1, WHRN
Kontaktní osoba: RNDr. Kolaříková, Mgr. Mičulková Dvořáková
Onemocnění a vady očí
ABCA1, ABCA4, ABCB6, ABHD12, ABHD5, ACBD5, ACO2, ADAMTS10, ADAMTS17, ADAMTS18, ADAM9, ADGRV1(GPR98, AGBL1, AGBL5, AGK, AHI1, AIPL1, ALDH1A3, ALMS1, APC, AP3B1, AP3D1, ARHGEF18, ARL2BP, ARL6, ARR3, ASB10, ATF6, ATOH7, ATP1A2, BBS1, BBS2, BCOR, BDNF, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, B3GALNT2, B3GLCT, B3GNT1(B4GAT1), CABP4, CACNA1A, CACNA1F, CACNA2D4, CAPN5, CA4, CCDC111(PRIMPOL), CDHR1, CDH23(USH1D), CDH3, CEP290, CEP78, CERKL, CFH, CFI, CIB2(USH1J, CISD2, CLN3, CLRN1(USH3A), CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL25A1, 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, C1QTNF5, C12orf57, C21orf2, C8orf37, 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, HSF4, HS6ST2, HTRA1, CHM, CHMP4B, CHN1, CHRDL1, CHST6, 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), LRPAP1, LRP5, LSS, LTBP2, LYST, MAB21L2, MAF, MAFB, MAK, MC1R, MERTK, MFRP, MIP(AQP0), MITF, MSTO1, MTPAP, MVK, MYOC, MYO7A(USH1B), NAA10, NDP, NDUFB11, NDUFS1, NEK2, NHS, NMNAT1, NOTCH2, NRL, NR2E3, NR2F1, NTF4, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OTX2, OVOL2, PAX2, PAX3, PAX6, PCARE(C2orf71), PCDH15(USH1F), PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX26, PEX7, PHYH, PIKFYVE, PIK3R1, 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, P3H2(LEPREL1), P4HA2, RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2(RAXL1), RBP3, RBP4, RCBTB1, RDH11, RDH12, RDH5, RD3, REEP6, RGR, RGS9, RGS9BP, RHO(OPN2), RIMS1, RLBP1(CRALBP), ROM1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RP1, RP1L1, RP2, RP9(PAP1), RS1, RTN4IP1, SAG, SALL2, SALL4, SCAPER, SCO2, SDCCAG8, SEMA4A, SHH, SH3PXD2B, SIPA1L3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A4, SLC38A8, SLC39A5, SLC4A11, SLC45A2(MATP), 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: RNDr. Pospíšilová, Ph.D., Ing. Bóday
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, BAG6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMPR1B, BMPR2, BMP4, BMP7, BOLA3, BRAF, BSND, B9D1/JBTS27/B9/MKS9, B9D2, CACNA1A, CASR, CAT, CAV1, CA2, CBLN2, CCDC28B, CC2D2A, CDC5L, CDC73, CD2AP, CD46/MCP, CENPF, CEP104, CEP120, CEP164, CEP290/NPHP6, CEP41, CEP83, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, CLCNKA, CLCNKB, CLCN5, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ8B, CRB2, CSPP1, CTC1, CTNNBIP1, CTNS, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP3A5, C3, C5orf42, c8orf37, C9orf72, 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, GALNT3, GANAB, GATA3, GBE1, GDNF, GLIS2/NPHP7, GLIS3, GNB3, GOSR2, GREB1L, GREM1, GRHPR, GRIP1, G6PC, HNF1B, HNF4A, HSD11B2, HTRA1, HYLS1, CHD1L, CHRM3, 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, MYOG, MYO1E, 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, SCNN1A, SCNN1B, SCNN1G, SCN1A, SDCCAG8, SEC63, SFTPA1, SFTPB, SFTPC, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC26A4, SLC3A1, SLC34A1, SLC34A3, SLC37A4, 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: Mgr. Indráková, Ing. Bóday
Onemocnění pojivových tkání
ACE, ACTA2, ADAMTSL4, ADAMTS10, ADAMTS2, ALDH18A1, APC2, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, BMP1, B3GALT6, B4GALT7, CARD14, CBS, CETP, COL1A1, COL1A2, COL12A1, COL3A1, COL4A1, COL5A1, COL5A2, CREB3L1, CRTAP, C1R, C1S, DSE, EDNRA, EFEMP2(FBLN4), ELN, ENG, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLNA, GATA5, GJB2, GJB3, GJB6, GORAB, GUCY1A1(GUCY1A3), CHST14, IFITM5, LEPRE1(P3H1), LOX, LOXL2, LTBP2, LTBP4, MAT2A, MED12, MFAP5, MMP2, MYH11, MYLK, NFIX, NOD2, NOTCH1, NSD1, PCSK9, PKD1, PKD2, PLOD1, PLOD2, PLS3, PPIB, PRDM5, PRKG1, PYCR1, P4HA1, RIN2, RNF213, SERPINF1, SERPINH1, SETD2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6, SPARC, SP7, STAT1, TGFBR1, TGFBR2, TGFBR3, TGFB2, TGFB3, TMEM38B, TNF, TNFRSF13B, TNXB, WNT1, ZNF469
Kontaktní osoba: Mgr. Křenková, Ing. Sítková
Vzácná onemocnění
ACD, ACVRL1, ACVR1, ADAMTSL4, AFF4, AGGF1, AKT1, AKT2, AKT3, ALMS1, ALX4, ANKRD11, ANK1, ANOS1, ANTXR2, APC2, ARHGAP31, ARID1A, ARID1B, ARID2, ARNT2, ARX, ASCL1, ASXL1, ASXL3, ATP7B, ATR, ATRIP, BMPR1B, BMP2, BMS1, BRAF, BRD4, BTRC, B3GALT6, CASR, CCDC141, CCND2, CDH23(USH1D), CDH3, CDKL5, CDKN1C, CD96, CENPE, CENPJ, CEP120, CEP152, CEP63, CFTR, 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, DNMT3A, DNM2, DOCK6, DOK7, DUSP6, DYNC2H1, DYNC2LI1, ECEL1, ECE1, EDNRB, EDN3, EED, EFNB1, ENG, EOGT, EPB42, EPS15L1, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EYA1, EZH2, FBLN1, FBN1, FBN2, FEZF1, FGD1, FGFR1, FGFR2, FGFR3, FGF16, FGF17, FGF8, FLII, FLNB, FLRT3, FOXG1, FREM1, FSHB, GABBR2, GATA1, GDF2, GDF3, GDF5, GDF6, GDNF, GJA1, GLI1, GLI2, GLI3, GNAS, GNRHR, GNRH1, GPC3, GPC4, GPR98(ADGRV1, HARS(USH3B), HDAC8, HESX1, HOXD13, HRAS, HSD3B2, HS6ST1, H19, CHD7, 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, MYOD1, MYO18B, MYO7A(USH1B), NALCN, NBN, NEK1, NEK9, NFIX, NF1, NF2, NHP2, NIN, NIPBL, NOG, NOP10, NOTCH1, NOTCH2, NRAS, NRTN, NRXN1, NR0B1, 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, PROKR2, PROK2, PROP1, PTEN, PTHLH, PTH1R, PTCH1, PTCH2, PTPN11, RAB23, RAD21, RAF1, RAI1, RAPSN, RAP1A, RAP1B, 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, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEM1, 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, TACR3, TAC3, TBX1, TBX5, TCF12, TCF4, TCOF1, TCTEX1D2, TCTN3, TERC, TERT, TFAP2A, TGFBR1, TGFBR2, TGFB2, TGFB3, TINF2, TNNI2, TNNT3, TPM2, TP63, 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: Ing. Cibulková, MBA, RNDr. Pospíšilová, Ph.D.

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