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	556 416 234, 556 416 232
Web	https://www.agellab.cz/
E-mail	spiros.tavandzis@lab.agel.cz
Kontaktní osoba	Mgr. Spiros Tavandzis, Ing. Arpád Bóday
Akreditace ČIA	8003
Poznámky
Poslední aktualizace:	22. července 2022
ID pro editaci:	MG59

Prováděná vyšetření

Název	Gen	MIM
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.

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

Molekulárně-genetická laboratoř

Prováděná vyšetření

NGS panely

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