Společnost lékařské genetiky a genomiky
České lékařské společnosti Jana Evangelisty Purkyně, z. s.
Molekulárně-genetická laboratoř
| Název | Laboratoře AGEL a. s. |
|---|---|
| Oddělení | Oddělení lékařské genetiky - laboratoř molekulární biologie |
| IČO | 16628373 |
| Adresa | Revoluční 2214/35 Nový Jičín 74101 |
| Telefon | 556 416 232,556 416 234 |
| Fax | |
| Web | https://www.agellab.cz/ |
| petra.cibulkova@lab.agel.cz | |
| Kontaktní osoba | Ing. Petra Cibulková, MBA; Ing. Arpád Bóday |
| Akreditace ČIA | 8003 |
| 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 | |||||
| Glykoprotein IIIa (trombocytopenie) | GP3A | 173470 | |||
| Mgr. Křenková | |||||
| 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 | |||||
| Faktor 5 Leiden | G1691A | 188055 | |||
| Mgr. Křenková | |||||
| Janusova kináza 2 , V617F mut.(Myeloproliferace s erytrocytózou) | JAK2 | 147796 | |||
| 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 | |||||
| Wilsonova choroba (WD) | ATP7B | 277900 | |||
| RNDr. Pospíšilová, Ph.D. | |||||
| Beals syndrom | FBN2 | 612570 | |||
| Mgr. Křenková, Ing. Sítková | |||||
| Hluchota (nesyndromální) - DFNB1 | GJB2 | 220290 | |||
| RNDr. Kolaříková | |||||
| 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 | |||||
| Dilatační kardiomyopatie | LMNA | 150330 | |||
| Mgr. Vaníčková | |||||
| 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. Indráková, Ing. Sítková | |||||
| Familiární maligní melanom | CDKN2A | 600160 | |||
| Mgr. Indráková, Ing. Sítková | |||||
| 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. Křenková, Ing. Sítková | |||||
| Hereditární nádor prsu | CHEK2 | 604373 | |||
| Mgr. Tavandzis | |||||
| Homocystinurie z deficitu methylentetrahydrofolátreduktázy | MTHFR | 607093 | |||
| Mgr. Křenková | |||||
| Onkogenéza PIK3CA | PIK3CA | 171834 | |||
| RNDr. Pospíšilová, Ph.D. | |||||
| Onkogenéza BRCA2 | BRCA2 | 600185 | |||
| 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 | |||||
| Sy Li-Fraumeni, LFS | TP53 | 191170 | |||
| Mgr. Indráková, Ing. Sítková | |||||
| Klonalita IgH | IGHV | 147070 | |||
| Ing. Sítková, Mgr. Dřímalová, Ph.D. | |||||
| Faktor VII | FVII | 227500 | |||
| Mgr. Křenková | |||||
| Adenomatózní polypóza tl. střeva | APC | 175100 | |||
| Mgr. Indráková, Ing. Sítková | |||||
| Fam. hypercholesterolemie (FH) | LDLR | 143890 | |||
| Mgr. Křenková | |||||
| Sy. Marfan, typ 2 (MFS2) | TGFBR1 | 190181 | |||
| Mgr. Křenková, Ing. Sítková | |||||
| Loeys-Dietz syndrome | TGRBR1 | 610380 | |||
| Mgr. Křenková, Ing. Sítková | |||||
| Hereditární nepolyposní karcinom tlustého střeva (Sy.Lynch) | MSH6 | 600678 | |||
| Mgr. Indráková, Ing. Sítková | |||||
| Hereditární nepolyposní karc. tl. střeva, (Sy. Lynch ) | MSH2 | 120435 | |||
| Mgr. Indráková, Ing. Sítková | |||||
| 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 | |||||
| Narkolepsie | HCRT | 161400 | |||
| Ing. Cibulková, MBA | vyšetřujeme DQB1*06:02 - na 6p21 | ||||
| Sy. Marfan (MFS2) | TGFBR2 | 154705 | |||
| Mgr. Křenková, Ing. Sítková | |||||
| Celiakální sprue | CD | 212750 | |||
| RNDr. Kolaříková | |||||
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: 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, 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. Tavandzis, Mgr. Indráková |
| 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. Vaníčková, Ing. Cibulková, MBA |
| 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: RNDr. Kolaříková, Mgr. Mičulková Dvořáková |
| 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: 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, 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: Mgr. Indráková, Ing. Bóday |
| 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. Křenková, Ing. Sítková |
| 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: Ing. Cibulková, MBA, RNDr. Pospíšilová, Ph.D. |
Upozornění: Za správnost údajů odpovídá pracoviště, které je do databáze nahlásilo.