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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
Web https://www.agellab.cz/
E-mailspiros.tavandzis@lab.agel.cz
Kontaktní osobaMgr. Spiros Tavandzis, Ing. Arpád Bóday
Akreditace ČIA8003
Poznámky
Poslední aktualizace:22. července 2022
ID pro editaci:MG59

Prováděná vyšetření

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

NGS panely

Familární hypercholesterolémie (15)
ABCA1, ABCG5, ABCG8, APOA1, APOA5, APOC2, APOC3, CREB3L3, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9
Kontaktní osoba: Mgr. Kirstová, Ph.D., Ing. Bóday
Poznámka: virtuální panel alfa FH_v3
Hereditární nádorové syndromy (CZECANCA v1.1) (225)
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. Davidová (Glogarová), Mgr. Tavandzis
Kardiogenetika (211)
A2ML1, ABCC9, ACADVL, ACTC1, ACTN2, AGL, AKAP9, ALDOA, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, APOA2, APOC2, APOC3, B2M, BAG3, BMPR2, BRAF, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CDK4, CDKN2A, CDKN2B, CHRM2, CITED2, CRELD1, CRYAB, CSRP3, CST3, CTF1, CTNNA3, CUL4B, DES, DMD, DNAJC19, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, EMD, ENO3, EPG5, EYA4, FGA, FGF12, FHL1, FHL2, FHOD3, FKTN, FLNC, FOXF1, GAA, GATA4, GATA5, GATA6, GATAD1, GJA1, GJA5, GLA, GPD1L, GSN, GYG1, GYS1, HAND1, HCN4, HRAS, ILK, JAG1, JPH2, JUP, KAT6B, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KMT2D, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, LYZ, LZTR1, MAP2K1, MAP2K2, MIB1, MIB2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYH7B, MYL2, MYL3, MYL4, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, MYRF, NCOA6, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NOS1AP, NOTCH1, NPPA, NR2F2, NRAP, NRAS, NUP155, OBSCN, PDLIM3, PGM1, PKP2, PLN, PLXND1, PPA2, PPCS, PPP1CB, PRDM16, PRDM6, PRKAG2, PTPN11, RAF1, RANGRF, RASA2, RBCK1, RBM20, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SEMA3A, SGCD, SGCG, SHOC2, SLC22A5, SLMAP, SMAD3, SNTA1, SOS1, SOS2, STAG2, SYNE2, TAF1A, TAZ, TBX1, TBX20, TBX4, TBX5, TCAP, TECRL, TFAP2B, TGFB3, TLL1, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM54, TRIM55, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL, ZFPM2
Kontaktní osoba: Mgr. Hrazděrová, Mgr. Crhová
Poznámka: virtuální panel alfa KARDIO_v3
Kožní onemocnění (91)
AAGAB, ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1B1, AQP5, ASPRV1, ATP2A2, ATP2C1, CARD14, CASP14, CAST, CDH12, CDSN, CERS3, CHST8, CLDN1, CLDN10, COL14A1, COL20A1, CSTA, CTSB, CTSC, CYP4F22, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FLG, FLG2, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2H5, IL36RN, JUP, KANK2, KDSR, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT6C, KRT83, KRT9, LIPN, LOR, MBTPS2, MPLKIP, MPZ, NIPAL4, NLRP1, NOD2, PERP, PEX7, PHYH, PKP1, PNPLA1, POMP, RHBDF2, RSPO1, SASH1, SDR9C7, SERPINA12, SERPINB7, SERPINB8, SLC27A4, SLURP1, SMARCAD1, SPINK5, SREBF1, ST14, STS, SULT2B1, SUMF1, TAT, TGM1, TGM5, TRPM4, TRPV3
Kontaktní osoba: Ing Mgr Jašková, Mgr. Skočková
Poznámka: virtuální panel alfa KOŽNÍ ONEMOCNĚNÍ_v3
Nefrogenetika a ciliopatie (606)
ABCA3, ABCB11, ABCB4, ABCC6, ABCC9, ACE, ACP5, ACTG2, ACTN4, ACVR2B, ACVRL1, ADAMTS13, ADAMTS9, ADAR, ADCY10, ADD3, AGPAT2, AGT, AGTR1, AGTR2, AGXT, AHI1, ALG8, ALG9, ALMS1, ALPL, ANKFY1, ANKS3, ANKS6, ANLN, ANOS1, AP2S1, APOL1, APRT, AQP2, AR, ARHGAP24, ARHGDIA, ARHGEF18, ARL13B, ARL6, ARMC9, ATP1A1, ATP1A2, ATP6AP2, ATP6V0A4, ATP6V1B1, ATP7B, ATP8B1, ATR, AVIL, AVP, AVPR2, B9D1, B9D2, BAG6, BANK1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BLK, BMP4, BMP7, BMPR1B, BMPR2, BNC2, BOLA3, BRAF, BSND, C1QA, C1QB, C1QC, C2, C2CD3, C3, C4A, C4B, C9orf72, CA2, CACNA1A, CASR, CAT, CAV1, CAVIN4, CBLN2, CC2D2A, CCDC103, CCDC141, CCDC28B, CCDC39, CCDC40, CCDC65, CCM2, CCND1, CCNO, CCNQ, CD151, CD2AP, CD46, CDC5L, CDC73, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP300, CFAP410, CFAP418, CFAP52, CFAP53, CFAP57, CFB, CFC1, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CGAS, CHD1L, CHRM3, CHRNA3, CILK1, CITED2, CLCN5, CLCNKA, CLCNKB, CLDN14, CLDN16, CLDN19, CLRN1, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ8B, CPE, CPLANE1, CR2, CRB1, CRB2, CRELD1, CRKL, CRX, CSF2RA, CSF2RB, CSPP1, CTC1, CTLA4, CTNS, CTU2, CUBN, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP24A1, CYP3A5, DACT1, DAW1, DCDC2, DDX58, DDX59, DGKE, DHCR7, DLC1, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH3, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DNASE1, DNASE1L3, DRC1, DSTYK, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DZIP1L, EGF, EHHADH, EIF2AK4, ELMOD2, EMP2, EMX2, ENG, ENPP1, ETS1, EVC, EVC2, EXOC3L2, EYA1, FAH, FAM111A, FAM149B1, FAM20A, FAM98C, FAN1, FAS, FASLG, FAT1, FBN3, FCGR2A, FCGR2B, FCGR3B, FGF20, FGF23, FGF8, FGF9, FGFR1, FGFR2, FN1, FOXC1, FOXC2, FOXD1, FOXE1, FOXH1, FOXI1, FRAS1, FREM1, FREM2, FURIN, FXYD2, G6PC, GALNT3, GANAB, GAPVD1, GAS2L2, GAS8, GATA3, GATA6, GATM, GBE1, GCH1, GDF1, GDNF, GJA1, GLA, GLI2, GLI3, GLIS2, GLIS3, GNA11, GNB3, GOSR2, GPC3, GREB1L, GREM1, GRHPR, GRIP1, GUCY2D, HAAO, HLA-DRB1, HNF1B, HNF4A, HOGA1, HOXA13, HPRT1, HPSE2, HSD11B2, HTRA1, HYDIN, HYLS1, IFIH1, IFNG, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IL10, ILK, IMPDH1, INF2, INPP5E, INVS, IQCB1, IRAK1, IRF5, ITGA3, ITGA8, ITGAM, JAG1, JAZF1, KANK1, KANK2, KANK4, KAT6B, KATNIP, KCNA1, KCNA5, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KCNK3, KIAA0319L, KIAA0586, KIAA0753, KIF14, KIF3B, KIF7, KL, KLHL3, KMT2D, KRIT1, KYNU, LAMA5, LAMB2, LCA5, LEFTY1, LEFTY2, LIN7C, LMX1B, LRAT, LRIG2, LRP2, LRP4, LRP5, LRRC56, LRRC6, LRRCC1, LZTFL1, MAGED2, MAGI2, MAGT1, MAPKBP1, MCIDAS, MECP2, MEGF8, MEN1, MEX3C, MFSD5, MKKS, MKS1, MMACHC, MMP21, MNS1, MOCOS, MTHFD1, MUC1, MUC5B, MYH9, MYO1E, MYO7A, MYOCD, MYOG, NADSYN1, NAT1, NCF1, NDUFAF6, NEK1, NEK4, NEK8, NFIA, NFU1, NIPBL, NKX2-1, NKX2-5, NME7, NME8, NODAL, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR1H4, NR3C2, NRIP1, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP93, OCRL, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, PAX2, PAX8, PBX1, PCARE, PCBD1, PCDH15, PCNT, PCSK5, PDCD10, PDE2A, PDE3A, PDE6D, PHEX, PHF6, PIBF1, PKD1, PKD1L1, PKD2, PKHD1, PLCE1, PLK4, PLXND1, PMM2, PNPLA6, POC1A, POC1B, PREPL, PRKCD, PRKCSH, PTPN22, PTPRO, PUF60, PXK, RAG2, RD3, RDH12, REN, RET, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, ROBO1, ROBO2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SAMHD1, SARS2, SCAPER, SCARB2, SCLT1, SCN1A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SGPL1, SHROOM3, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A12, SLC26A1, SLC26A4, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC37A4, SLC3A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A9, SLC9A3R1, SLIT2, SLIT3, SMAD4, SMAD9, SMARCAL1, SOX17, SPAG1, SPP1, SPR, SPRY2, SRCAP, STAT4, STING1, STK36, SUFU, TAC3, TBC1D8B, TBX18, TCTN1, TCTN2, TCTN3, TFAP2A, TH, THBD, THRA, THRB, TJP2, TMEM107, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM256, TMEM67, TNFAIP3, TNFSF4, TNIP1, TNS3, TOPORS, TRAF3IP1, TRAP1, TRAPPC3, TREX1, TRIM32, TRPC6, TRPM6, TRPM8, TSC1, TSC2, TSHR, TTC21B, TTC8, TTF1, TULP1, TXNDC15, UBE2L3, ULK4, UMOD, UPK3A, USF2, USH1C, USH1G, USH2A, USP9X, UTRN, VHL, VIPAS39, VPS33B, VTN, WDPCP, WDR19, WDR35, WDR72, WDR73, WHRN, WNK1, WNK4, WNT11, WNT4, WT1, XDH, XPNPEP3, ZIC3, ZMYND10, ZNF365, ZNF423
Kontaktní osoba: Mgr. Kirstová, Ph.D., Mgr. Vaníčková, Ing. Bóday
Poznámka: virtuální panel alfa NEFRO_v3
Nesyndromová hluchota (včetně dif. diagnostiky) (208)
ABCC1, ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ARSG, ATP2B2, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BMP4, BSND, CABP2, CACNA1D, CCDC50, CCS, CD164, CDC14A, CDH23, CEACAM16, CEMIP, CEP250, CEP78, CIB2, CISD2, CLCNKA, CLCNKB, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COQ6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DNAJC3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR3, FOXI1, GAB1, GATA2, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, GZF1, HARS1, HARS2, HGF, HOMER2, HOXA1, HOXA2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LHFPL6, LMX1A, LOXHD1, LOXL3, LRTOMT, MAFB, MAP3K20, MARVELD2, MCM2, MET, MIA, MIR96, MITF, MPZ, MPZL2, MRPS7, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO3A, MYO6, MYO7A, NARS2, NF2, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PCNA, PDE1C, PDZD7, PEX1, PEX26, PEX6, PJVK, PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, RIPOR2, ROR1, RRM2B, S1PR2, SCD5, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC44A4, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMPX, SNAI2, SOX10, SOX2, SPATA5L1, SPATC1L, SPNS2, STRC, SYNE4, TBC1D24, TECTA, TFAP2A, THOC1, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK, TYR, USH1C, USH1G, USH2A, USP48, WBP2, WFS1, WHRN
Kontaktní osoba: Mgr. Tavandzis, Ing. Mgr. Jašková
Poznámka: virtuální panel alfa HLUCHOTA_v3
Onemocnění a vady očí (599)
AAAS, ABCA1, ABCA4, ABCB6, ABHD12, ABHD5, ACBD5, ACO2, ACTB, ACTG1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADGRV1, ADIPOR1, AFG3L2, AGBL1, AGBL5, AGK, AGPS, AHI1, AHR, AIPL1, ALDH18A1, ALDH1A3, ALMS1, AMACR, ANOS1, AP3B1, AP3D1, APC, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARMS2, ARNT2, ARR3, ARSG, ASB10, ATF6, ATOH7, ATP1A2, ATP1A3, ATXN1, ATXN7, AUH, B3GALNT2, B3GLCT, B3GNT1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BDNF, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BTD, C12orf57, C12orf65, C1QTNF5, C21orf2, C8orf37, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CAPN5, CASK, CC2D2A, CDH23, CDH3, CDHR1, CENPF, CEP104, CEP120, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFB, CFH, CFHR1, CFHR1, CFHR3, CFHR3, CFI, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2, CISD2, CLCC1, CLDN19, CLN3, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL25A1, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, CP, CPAMD8, CRB1, CRPPA, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CST3, CTC1, CTDP1, CTNNA1, CTNNB1, CTSD, CWC27, CX3CR1, CYP1B1, CYP27A1, CYP4V2, CYP51A1, DAG1, DCN, DCT, DDX58, DDX59, DHCR7, DHDDS, DHX38, DNAJC19, DNM1L, DNMBP, DRAM2, DTHD1, DTNBP1, EDN3, EDNRB, EED, EFEMP1, ELOVL4, ELP4, EPG5, EPHA2, ESPN, EXOSC2, EYA1, EYS, FAM126A, FAM161A, FAR1, FBLN5, FBN1, FBN2, FDXR, FGF8, FGFR1, FKRP, FKTN, FLNA, FLVCR1, FOXC1, FOXD3, FOXE3, FOXL2, FRMD7, FSCN2, FTL, FXN, FYCO1, FZD4, FZD5, GALK1, GALT, GCNT2, GDF3, GDF6, GFER, GJA1, GJA3, GJA8, GLI2, GLIS3, GMPPB, GNAT1, GNAT2, GNB3, GNPAT, GPR143, GPR179, GRHL2, GRK1, GRM6, GSN, GTF2H5, GUCA1A, GUCA1B, GUCY2D, GZF1, HARS1, HCCS, HESX1, HGSNAT, HK1, HKDC1, HMCN1, HMGB3, HMX1, HOXA1, HPS1, HPS3, HPS4, HPS5, HPS6, HS6ST2, HSF4, HTRA1, HTRA2, IARS2, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT88, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, IQCB1, ISCA2, ITM2B, ITPR1, JAG1, JAM3, KCNJ13, KCNV2, KERA, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF3B, KIF7, KIT, KITLG, KIZ, KLHL7, KRT12, KRT3, LAMA1, LARGE1, LCA5, LCAT, LEMD2, LHX3, LHX4, LIM2, LMX1B, LONP1, LOXL1, LOXL3, LRAT, LRIT3, LRMDA, LRP2, LRP5, LRPAP1, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAFB, MAK, MAN2B1, MAPKAPK3, MC1R, MCAT, MECR, MED25, MERTK, MFN2, MFRP, MFSD8, MIP, MIPEP, MITF, MKKS, MKS1, MLPH, MSMO1, MSTO1, MTPAP, MTTP, MVK, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NDUFAF3, NDUFB11, NDUFS1, NEK2, NF2, NHS, NMNAT1, NOTCH2, NPHP1, NPHP4, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OTX2, OVOL2, P3H2, P4HA2, PANK2, PANK4, PAX2, PAX3, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDSS1, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHOX2A, PHYH, PIK3R1, PIKFYVE, PITPNM3, PITX1, PITX2, PITX3, PLA2G5, PLK4, PMM2, PNPLA6, POC1B, POLA1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POU1F1, PRCD, PRDM13, PRDM5, PRIMPOL, PROKR2, PROM1, PROP1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PUF60, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, RXYLT1, SACS, SAG, SALL2, SALL4, SAMD11, SC5D, SCAPER, SCLT1, SCO2, SDCCAG8, SEMA4A, SETX, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX6, SLC16A12, SLC19A2, SLC24A1, SLC24A5, SLC25A4, SLC25A46, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC52A2, SLC6A6, SLC7A14, SLITRK6, SMOC1, SNAI2, SNRNP200, SNX10, SNX3, SOX1, SOX10, SOX2, SOX3, SPATA7, SPG7, SPP2, SRD5A3, SSBP1, STN1, STRA6, STS, TACSTD2, TAX1BP3, TBC1D20, TCF4, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFBI, TIMM8A, TIMP3, TINF2, TLCD3B, TLR4, TMEM126A, TMEM126A, TMEM237, TMEM98, TOPORS, TP63, TPP1, TRAF3IP1, TREX1, TRIM32, TRIM44, TRNT1, TRPM1, TSFM, TSPAN12, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TWNK, TYR, TYRP1, UBIAD1, UNC119, UNC45B, USH1C, USH1G, USH2A, USP45, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDR19, WDR36, WFS1, WHRN, WRN, WT1, XYLT2, YAP1, YME1L1, ZEB1, ZNF408, ZNF423, ZNF513, ZNF644, ZNHIT3
Kontaktní osoba: Mgr. Staňková, Mgr. Janušková
Poznámka: virtuální panel alfa OČI_v3
Onemocnění pojivových tkání (151)
ABCC6, ABL1, ACTA2, ACVRL1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ANGPTL6, APC2, ARHGEF17, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, BRCC3, C1R, C1S, CASK, CBL, CBS, CCER2, CCM2, CHD4, CHST14, CNOT3, COL11A1, COL12A1, COL1A1, COL1A2, COL22A1, COL2A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL9A1, COL9A2, CREB3L1, CRTAP, DLG4, DSE, EFEMP2, ELN, EMILIN1, ENG, ENPP1, ERBB4, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLCN, FLNA, FLNB, FOXE3, GATA4, GATA5, GDF2, GORAB, GUCY1A1, HEY2, HPGD, IFITM5, KDELR2, KRIT1, LOX, LOXL2, LRP1, LRP5, LTBP1, LTBP2, LTBP4, MAT2A, MBTPS2, MED12, MESD, MFAP5, MYH11, MYLK, NBAS, NF1, NFIX, NKX2-5, NOD2, NOTCH1, NSD1, NTRK1, P3H1, P4HA1, PCNT, PDCD10, PKD1, PKD2, PLOD1, PLOD2, PLOD3, PLS3, PPIB, PRDM5, PRDM6, PRKG1, PYCR1, RASA1, RIN2, RNF213, ROBO4, SCN9A, SEC24D, SERPINF1, SERPINH1, SETD2, SETD5, SKI, SLC2A10, SLC2A2, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SP7, SPARC, TAB2, TENT5A, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, THSD1, TMEM38B, TNFRSF13B, TNXB, UPF3B, WNT1, XYLT1, XYLT2, ZDHHC9, ZNF469
Kontaktní osoba: Mgr. Hrazděrová, Mgr. Jašková, Mgr. Skočková
Poznámka: virtuální panel alfa POJIVA_v3
Vzácná onemocnění - základní panel (490)
A2ML1, ABCD1, ABL1, ACAN, ACD, ACVR1, ACVRL1, ADA2, ADAMTSL4, ADCY6, AFF4, AGGF1, AKT1, AKT2, AKT3, ALMS1, ALX1, ALX3, ALX4, ANAPC1, ANK1, ANKRD11, ANOS1, ANTXR2, APC2, AR, ARHGAP31, ARID1A, ARID1B, ARID2, ARNT2, ARX, ASCC1, ASCL1, ASXL1, ASXL3, ATP7A, ATP7B, ATR, ATRIP, B3GALT6, B3GAT3, BICD2, BMP2, BMPR1B, BRAF, BRD4, BRWD3, BTD, BTRC, CASR, CBL, CCDC141, CCDC8, CCND2, CD96, CDC45, CDC6, CDH3, CDKL5, CDKN1C, CDT1, CENPE, CENPJ, CEP120, CEP152, CEP63, CFTR, CHRNA1, CHRND, CHRNG, CHST14, CNTN1, CNTNAP1, CNTNAP2, COG4, COL11A1, COL11A2, COL17A1, COL2A1, COL7A1, COL9A1, COL9A2, COLEC10, COLEC11, COMP, CREBBP, CTC1, CTRC, CUL4B, CUL7, CYP11B1, CYP17A1, CYP21A2, DCX, DEAF1, DHCR24, DHCR7, DIS3L2, DKC1, DLL4, DLX5, DLX6, DNA2, DNM2, DNMT3A, DOCK6, DOK7, DPF2, DSE, DUSP6, DYNC2H1, DYNC2LI1, ECE1, ECEL1, EDN3, EDNRB, EED, EFNB1, ENG, EOGT, EP300, EPB42, EPS15L1, ERBB2, ERBB3, ERF, ERGIC1, ESCO2, EVC, EVC2, EXT1, EXT2, EZH2, FBLN1, FBN1, FBN2, FEZF1, FGD1, FGF16, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FKBP10, FLII, FLNB, FLRT3, FOXG1, FREM1, FSHB, GABBR2, GATA1, GDF2, GDF3, GDF5, GDF6, GDNF, GJA1, GLE1, GLI1, GLI2, GLI3, GMNN, GNAS, GNRH1, GNRHR, GPC3, GPC4, GRHL3, HDAC8, HESX1, HMGA2, HOXD13, HRAS, HS6ST1, HSD3B2, IDH1, IDH2, IFNG, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IGF1, IGF2, IHH, IKBKG, IL17RD, IQCE, IQSEC2, IRF6, ITGA6, ITGB4, JAG1, KAT6B, KCTD1, KDM6A, KIAA0586, KIAA1109, KIF14, KIF22, KIF2A, KIF5C, KISS1, KISS1R, KIT, KITLG, KLHL7, KMT2A, KMT2D, KRAS, KRT14, KRT5, L1CAM, LAMA3, LAMB3, LAMC2, LEP, LEPR, LEPROT, LGI4, LHB, LHX3, LHX4, LIG4, LMBR1, LMX1B, LZTR1, MAGEL2, MAP2K1, MAP2K2, MASP1, MAU2, MBD5, MC2R, MC3R, MC4R, MCM5, MCPH1, MECP2, MEFV, MEGF8, MEIS2, MEOX1, MID1, MITF, MMP1, MRAS, MSX2, MTOR, MUSK, MVK, MYBPC1, MYH3, MYH8, MYO18B, MYOD1, MYT1, NALCN, NBN, NEB, NEK1, NEK9, NF1, NF2, NFIX, NHP2, NIN, NIPBL, NOG, NOP10, NOTCH1, NOTCH2, NPM1, NR0B1, NRAS, NRTN, NRXN1, NSD1, NSMCE2, NSMF, NSUN2, NTNG1, NUP88, OBSL1, OCA2, OFD1, ORC1, ORC4, ORC6, OTX2, PAFAH1B1, PAH, PARN, PAX3, PCNT, PDE3A, PDGFRB, PHF6, PHOX2B, PIEZO2, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PIP5K1C, PLAG1, PLK4, POLR1B, POLR1C, POLR1D, POMC, POR, POU1F1, PPP1CB, PRF1, 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, RIPK4, RIT1, RLIM, RNF135, ROR2, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRAS, RRAS2, RTEL1, RYR1, SALL4, SAMD9, SBDS, SC5D, SCARF2, SEM1, SEMA3A, SEMA3C, SEMA3D, SETD2, SETD5, SH2B1, SHH, SHOC2, SHOX, SIM1, SLC18A3, SLC26A2, SLC35A3, SLC4A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMO, SNAI2, SOS1, SOS2, SOST, SOX10, SOX11, SOX2, SOX3, SOX4, SOX9, SPECC1L, SPINK1, SPRED1, SPRY4, SPTA1, SPTB, SRCAP, SREBF1, STAR, STXBP1, SUFU, SYNE1, TAC3, TACR3, TBCK, TBX1, TBX5, TCF12, TCF4, TCOF1, TCTEX1D2, TCTN3, TERC, TERT, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TINF2, TNNI2, TNNT3, TP63, TPM2, TRAIP, TRIP11, TRIP4, TRPS1, TRPV4, TSR2, TTC21B, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TWIST1, TYR, UBA1, UBE3A, UGT1A1, UNC80, USB1, USH2A, VIPAS39, VPS13B, VPS33B, WDR11, WDR19, WDR34, WDR35, WDR60, WNT10B, WNT7A, WRAP53, YWHAE, ZC4H2, ZEB2, ZIC1, ZNF141
Kontaktní osoba: Mgr. Handrychová (Havranová), Mgr. Korená
Poznámka: virtuální panel alfa VZÁCNÁ ONEMOCNĚNÍ_v3
Wilsonova choroba a hereditární pankreatitida (4)
ATP7B, CFTR, CTRC, SPINK1
Kontaktní osoba: Mgr. Hrazděrová, Mgr. Skočková
Poznámka: virtuální panel alfa WILSON_HP_v3

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