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

  1. Databáze pracovišť
  2. Molekulárně-genetické laboratoře
  3. Laboratoře AGEL a. 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:17. července 2025
ID pro editaci:MG59

Prováděná vyšetření

Název Gen MIM OrphaCode EQA REF
Defekt apoliproproteinu E APOE 107741
Ing. Bóday
Sy. Gilbert UGT1A1 143500
Ing. Bóday
Onkogenéza BRCA1 BRCA1 113705
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D., Mgr. Valerie Prausová
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
Ankylosující spondylitida HLA-B27 106300
Ing. Bóday
Hemochromatóza HFE 235200
Ing. Bóday
Wilsonova choroba (WD) ATP7B 277900
Mgr. Hrazděrová
Beals syndrom FBN2 612570
Mgr. Brožová (Skočková), RNDr. Fišer
Beta-fibrinogen (FGB) FGB 134830
Ing. Bóday
Dilatační kardiomyopatie LMNA 150330
Mgr. Hrazděrová; Ing. Herkommerová, Ph.D.
Onkogenéza BRAF (melanom, kolorektální karcinom, papilární karcinom štítné žlázy) BRAF 164757
Mgr. Valerie Prausová
Onkogenéza - NRAS NRAS 164790
Mgr. Valerie Prausová
Onkogenéza K-RAS KRAS2 190070
Mgr. Valerie Prausová
Hereditární nepolyposní karc. tl. střeva MLH1 609310
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Ectopia lentis AR ADAMTSL4 225100
Mgr. Brožová (Skočková), Ing. Bóday
Hereditární nádor prsu CHEK2 604373
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Familiární maligní melanom CDKN2A 600160
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Onkogenéza PIK3CA PIK3CA 171834
Mgr. Valerie Prausová
Onkogenéza BRCA2 BRCA2 600185
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D., Mgr. Valerie Prausová
Familiární hypercholesterolemie typu B, Familiární defekt apolipoproteinu B-100 (FDB) APOB 144010
Mgr. Hana Kuchařová
Mnohočetná endokrinní neoplazie typ 1 MEN1 131100
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Gastrointestinální stromální tumory (mut.c-kit) KIT 164920
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Hereditární rakovina žaludku CDH1 192090
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Klonalita IgH IGHV 147070
Mgr. Hana Kuchařová
Adenomatózní polypóza tl. střeva APC 175100
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Hereditární nepolyposní karcinom tlustého střeva (Sy.Lynch) MSH6 600678
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D., Mgr. Valerie Prausová
Fam. hypercholesterolemie (FH) LDLR 143890
Mgr. Hana Kuchařová
Faktor 5 Leiden G1691A 188055
Ing. Bóday
Sy. fragilního X,( FRAXA) FMR1 309550
RNDr. Jiří Fišer
Celiakální sprue CD 212750
RNDr. Fišer
Sy. Marfan (MFS2) TGFBR2 154705
Mgr. Brožová (Skočková), RNDr. Fišer
Onkogenéza (CML,ALL,AML)-BCR/ABL BCR/ABL 608232
Mgr. Hana Kuchařová
Janusova kináza 2 , V617F mut.(Myeloproliferace s erytrocytózou) JAK2 147796
Mgr. Hana Kuchařová
Loeys-Dietz syndrome TGRBR1 610380
Mgr. Iveta Brožová (Skočková), RNDr. Fišer
Sy. Marfan, typ 2 (MFS2) TGFBR1 190181
Mgr. Iveta Brožová (Skočková), RNDr. Fišer
Def. alfa-1-antitrypsinu SERPINA1 107400
Ing. Bóday
Hypertrofické kardiomyopatie 14q12, 1q32 160760
Mgr. Hrazděrová; Ing. Herkommerová, Ph.D.
Hereditární pankreatitida PRSS1, PRSS1, SPINK1, CFTR 167800
Mgr. Hana Hrazděrová, Mgr. Iveta Brožová (Skočková)
Sy. Marfan (MFS1) FBN1 154700
Mgr. Brožová (Skočková), RNDr. Fišer
Faktor 5 Leiden G1691A 188055
Ing. Bóday
Mikrosatelitová instabilita, nádory GIT (karcinom kolorekta, žaludku) - markery D2S123, D5S346, D17S250, BAT25, BAT26, BAT40 900029
Mgr. Valerie Prausová
Sy Li-Fraumeni, LFS TP53 191170
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Cystická fibróza CFTR 219700
RNDr. Jiří Fišer, Mgr. Spiros Tavandzis 50 patogenních variant
Myofibrilární myopatie z dysfunkce alfa-B-krystalinu CRYAB 123590
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Sy. prodlouženého QT intervalu LQT 192500
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Hluchota (nesyndromální) - DFNB1 GJB2 220290
Ing. Mgr. Jašková, Mgr. Tavandzis, Mgr. Rašková
X-vázaná juvenilní retinoschisa, XLRS1 RS1 312700
Ing. Mgr. Jašková, Mgr. Rašková
Deficit biotinidázy BTD 253260
Ing. Mgr. Jašková, Mgr. Rašková
Sy. Smith-Lemli-Opitz (SLOS) DHCR7 270400
Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Spiros Tavandzis
Sy. Pendred - PDS SLC26A4 274600
Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
Filaggrin 1q21 135940
Ing. Mgr. Lenka Jašková, Mgr. Iveta Brožová (Skočková)
Primární kongenitální glaukom MYOC 137750
Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková, Ing. Arpád Bóday
Typ katarakty, mutace v genu pro gama-D-krystalin CRYGD 115700
Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
Usherův syndrom USH2A 608400
Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
Sticklerův syndrom COL2A1 120140
Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková, Ing. Arpád Bóday
Thorakální AORTICKE aneurysma TGFBR1 607086
Mgr. Iveta Brožová (Skočková), RNDr. Jiří Fišer
Osteogenesis imperfecta COL1A1 166200
Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Iveta Brožová
Ichtyózyformní erythroderma TGM1 190195
Ing. Mgr. Lenka Jašková, Mgr. Iveta Brožová (Skočková)
nebulosní kongenitální ichtyosiformní erythroderma ALOX12B, ALOXE3 242100
Ing. Mgr. Lenka Jašková, Mgr. Iveta Brožová (Skočková)
Ichthyosis vulgaris FLG 146700
Ing. Mgr. Lenka Jašková, Mgr. Iveta Brožová (Skočková)
X-vázaná recesivní ichtyóza STS 308100
Ing. Mgr. Lenka Jašková, Mgr. Iveta Brožová (Skočková)
Optická atrofie 1, AD OPA1 165500
Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
Optická atrofie 1 a hluchota OPA1 125250
Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
Leberova hereditární optická neuropatie LHON 535000
Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková m.3460G>A, m.11778G>A, m.14484T>C + 7 dalších Další vyšetřované varianty: m.11777C>A, m.14459G>A, m.14482C>G, m.14482C>A, m.14487T>C, m.14495A>G, m.14568C>T
Ageneze ledvin HRA 191830
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
AD polycystóza ledvin PKD2 173910
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
AD polycystóza ledvin PKD1 601313
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
aHUS (hemolytic uremic syndrom, atypical) CFH 134370
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
aHUS (hemolytic uremic syndrom, atypical) MCP 120920
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
aHUS (hemolytic uremic syndrom, atypical) CFI 217030
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Trombophilia, aHUS (hemolytic uremic syndrom, atypical), THBD 188040
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Alportův syndrom COL4A5 301050
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Alportův syndrom, autozomálně recesivní COL4A3, COL4A4 203780
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Familiární juvenilní hyperurikemická nefropatie (FJHN) UMOD 162000
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Homocystinurie (def.CBS) CBS 236200
Ing. Mgr. Lenka Jašková, Mgr. Iveta Brožová (Skočková)
Gitelmanův syndrom SLC12A3 600968
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Progresivní familiální intrahepatická cholestasa ABCB4 171060
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Nefrogení diabetes isipidus AVPR2 300538
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Renální hypourikémie SLC2A9 612076
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Renální hypourikémie SLC22A12 607096
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Tuberózní skleróza TSC2 191090
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Amyloidóza z depozice TTR TTR 105210
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Sy. Barth TAZ 302060
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Danonova choroba LAMP2 300257
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Fabryho choroba, dif.angiokeratom GLA 301500
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Holt Oramův syndrom TBX5 142900
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Ventricular Tachycardia, Catecholaminergic Polymorphic 2 CPVT2 611938
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Barterův syndrom CLCNKB 602023
Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
Mozková arteriopatie , CADASIL NOTCH3 125310
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Syndrom Wolff-Parkinson-White PRKAG2 194200
Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Onkogenéza EGFR EGFR 131550
Mgr. Valerie Prausová
Hereditární nepolyposní karc. tl. střeva, (Sy. Lynch ) MSH2 120435
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D., Mgr. Valerie Prausová
Sy. Cowden, CD, Sz Bannayan-Riley-Ruvacalba, BRRS PTEN 158350
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D., Mgr. Valerie Prausová
Juvenilní polypóza SMAD4 174900
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Autozomálně recesivně dědičná střevní polypóza MYH 608456
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Leiomyomy(četné) podkožní a děložní FH 150800
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Familární maligní melanom CDK4 123829
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Retinoblastom RB1 180200
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Neurofibromatóza typu I NF1 162200
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D., Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D.
Neurofibromatóza typu II NF2 101000
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D., Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D.
Sy. Nijmegen breakage NBS 251260
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Wilmsův tumor WT1 194070
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Medulární karcinom štítné žlázy RET 155240
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Feochromocytom RET 171300
Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Sy. Rett MECP2 312750
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Diabetes mellitus MODY 5 TCF2,HNF-1-BETA 137920
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Sy. Prader-Willi, PWS PWCR 176270
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Mikrodelece chromozomu Y (DAZ) DAZ1 400003
RNDr. Jiří Fišer
Sy. DiGeorge/CATCH22/ DGS 188400
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Angelmanův syndrom ANCR, UBE3A 105830
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Carney complex 1 PRKAR1A 188830
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Epidermolysis bullosa simplex (EBS) KRT14, KRT5 131760
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Epidermolysis bullosa dystrophica (RDEB ,DDEB) COL7A1 226600
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Fenylketonurie (PKU) PAH 261600
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Sy. Gorlin PTCH 601309
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Hirschsprungova ch. HSCR/MTC 142623
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Sy. Rett (kongenitální varianta) FOXG1 613454
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Časná infantilní epileptická encefalopatie typ 2 Sy. Rett (varianta s časnými záchvaty) CDKL5 300672
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Sy. Beckwith-Wiedemann CDKN1C 130650
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Holoprosencefalie,HPE3 SHH 600725
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Holoprosencefalie, HPE5 ZIC2 603073
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Holoprosencefalie, HPE4 TGIF 602630
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Holoprosencefalie, HPE2 SIX3 603714
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Adrenoleukodystrofie X-vázaná ABCD1 300100
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Glykogenóza, typ II (GSDII) GAA 232300
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Glykogenóza IV GBE l 232500
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Glykogenóza typ 1A (GSD1A) G6PC 232200
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Pseudohypoparathyroidismus, Albrightova hereditární osteodystrofie, pseudopseudohypopparathyroidismus GNAS1 139320
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Hypochondroplázie HCH 146000
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Def. MCAD: porucha mitochondriální beta-oxidace ACADM 201450
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Homocystinurie z deficitu methylentetrahydrofolátreduktázy MTHFR 607093
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Maturity-Onset Diabetes of the Young, type 2 GCK 125851
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Maturity-Onset Diabetes of the Young, type 1 HNF4A 125850
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Permanent Diabetes Mellitus of Infancy, PDMI KCNJ11 606176
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Juvenilní diabetes způsobený mutací inzulínového genu INS 900040
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Maturity-Onset Diabetes of the Young, type 3 TCF1,HNF-1ALPHA 600496
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Kongenitální adrenální hyperlazie (CAH) CYP11B1 202010
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Kongenitální adrenální hyperplazie( CAH) CYP21A2 201910
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Primární aldosteronismus GRA 103900
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Beta-adrenergní receptor 3 (Obezita) ADRB3 109691
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Achondroplázie FGFR3 100800
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Ektrodaktylie, ektodermální dysplázie, rozštěp rtu/patra TP63 603273
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Kampomelická dysplázie SOX9 608160
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Chondrodysplasia punctata, X-dominantní, CDPX2 EBP 302960
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Thanatoforická dysplázie TD1, TD2 FGFR3 187600
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Holt Oramův syndrom TBX5 142900
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Sy. Crouzon FGFR2 123500
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Pffeiferův syndrom FGFR2 101600
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Sy. Seathre-Chotzen TWIST1 601622
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Lerri-Weil dyschondrosteoza SHOX 127300
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Sy. Russell-Silver RSS 180860
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.
Sy. Treacher-Collins- Franceschetti TCOF 154500
Mgr. Markéta Kateřiňáková (Korená); Mgr. Pavla Christelová, Ph.D.

Prováděná vyšetření metodou MLPA

Kit Název Kontaktní osoba Poznámka
P152 ABCA4 mix-2 Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
P018 SHOX Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová
P034 DMD-1 Mgr. Hana Hrazděrová; Ing. Klára Herkommerová, Ph.D.; Mgr. Pavla Christelová, Ph.D.
P050 CAH Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D.
P060 SMA Carrier Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., RNDr. Jiří Fišer
P081 NF1 mix 1 Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Veronika Krhutová
P082 NF1 mix 2 Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Veronika Krhutová
P091 CFTR RNDr. Jiří Fišer, Mgr. Hana Hrazděrová
P098 Wilson disease Mgr. Hana Hrazděrová, Mgr. Iveta Brožová (Skočková)
P106 X-linked ID Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová
P155 EDS Mgr. Iveta Brožová (Skočková), RNDr. Jiří Fišer
P220 Obesity Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Karolina Bolková
P235 Retinitis Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková, Ing. Arpád Bóday
P242 Pancreatitis Mgr. Hana Hrazděrová, Mgr. Iveta Brožová (Skočková)
P245 Microdeletion Syndromes-1A Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Karolina Bolková
P250 DiGeorge Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Karolina Bolková
P325 OCA2 Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
P328 EYS Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
P351 PKD1 Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
P352 PKD1-PKD2 Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
P355 Microcephaly Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Karolina Bolková
P361 USH2A mix 1 Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
P362 USH2A mix 2 Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
P387 NPHP1 Mgr. Pavla Vaníčková, Mgr. Monika Kudělková
P457 DHCR7 Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Spiros Tavandzis
P151 ABCA4 mix-1 Ing. Mgr. Lenka Jašková, Mgr. Stanislava Rašková
P002 BRCA1 Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
P045 BRCA2/CHEK2 Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
P008 PMS2 Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
P031 FANCA mix 1 Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
P032 FANCA mix 2 Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
P046 TSC2 Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
P124 TSC1 Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
P190 CHEK2 Mgr. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
P044 NF2 Mgr. Veronika Krhutová, Mgr. Pavla Christelová, Ph.D.
P215 EXT Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Spiros Tavandzis

NGS panely

Virtuální panel Endokrinní a kostní onemocnění (1375) (Klinický exom (CES))
A2ML1, AAAS, AARS1, AARS2, ABCC2, ABCC8, ABCC9, ABCD1, ABL1, ACADM, ACAN, ACAT1, ACD, ACP5, ACSF3, ACTB, ACVR1, ACVRL1, ADA, ADA2, ADAMTSL2, ADAMTSL4, ADCY6, ADGRG1, ADIPOQ, ADRB2, ADRB3, AEBP1, AFF2, AFF4, AGA, AGGF1, AGL, AGPS, AGRP, AIFM1, AIRE, AK7, AKR1C2, AKR1C4, AKT1, AKT2, AKT3, ALDH18A1, ALDOA, ALDOB, ALG1, ALG12, ALG8, ALMS1, ALPL, ALX1, ALX3, ALX4, AMER1, AMH, AMHR2, AMY1A, ANAPC1, ANK1, ANKH, ANKRD11, ANO5, ANOS1, ANTXR2, AP1S1, AP2S1, APC2, APPL1, AQP2, AR, ARCN1, ARG1, ARHGAP31, ARID1A, ARID1B, ARID2, ARL6, ARMC5, ARNT2, ARSB, ARSL, ARX, ASCC1, ASCL1, ASXL1, ASXL2, ASXL3, ATAD3A, ATM, ATP5F1A, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, ATR, ATRIP, ATRX, AURKC, AUTS2, AVP, AVPR1A, AVPR1B, AVPR2, AXL, B3GALT6, B3GAT3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCL7B, BCOR, BCS1L, BDNF, BGN, BHLHA9, BICD2, BLK, BLVRA, BMP1, BMP15, BMP2, BMP4, BMPER, BMPR1B, BNC1, BPNT2, BRAF, BRD4, BRD8, BRF1, BRPF1, BRWD3, BSND, BTD, BTK, BTRC, BUD23, C14orf39, C2CD6, CA12, CA2, CACNA1D, CACNA1H, CANT1, CARTPT, CASK, CASR, CATIP, CBL, CBLN4, CBX2, CCDC141, CCDC34, CCDC62, CCDC8, CCK, CCN6, CCND2, CCNQ, CCR5, CD96, CDC42, CDC45, CDC6, CDC73, CDH3, CDKL5, CDKN1A, CDKN1B, CDKN1C, CDKN2B, CDKN2C, CDON, CDT1, CEL, CENPE, CENPJ, CEP120, CEP152, CEP19, CEP290, CEP41, CEP63, CFAP251, CFAP418, CFAP43, CFAP44, CFAP65, CFAP70, CFH, CFHR1, CFHR3, CFTR, CGA, CHD4, CHD7, CHRNA1, CHRND, CHRNG, CHST14, CHST3, CHSY1, CIBAR1, CKAP2L, CLCN2, CLCN5, CLCN7, CLCNKB, CLDN16, CLDN19, CLIP2, CLMP, CLPB, CLPP, CNNM2, CNNM4, CNTN1, CNTNAP1, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COL10A1, COL11A1, COL11A2, COL17A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL7A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COX7B, CPE, CREB3L1, CREBBP, CRH, CRHR1, CRIPT, CRTAP, CSF1R, CSGALNACT1, CSPP1, CT55, CTC1, CTLA4, CTNNB1, CTRC, CTSA, CTSK, CTU2, CUL4B, CUL7, CWC27, CYB5A, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP21A2, CYP24A1, CYP26B1, CYP27B1, CYP2R1, CYP3A4, DCAF17, DCC, DCHS1, DCX, DDR2, DDRGK1, DEAF1, DGAT1, DHCR24, DHCR7, DHDDS, DHH, DHX37, DIAPH2, DICER1, DIO1, DIO2, DIS3L2, DISP1, DKC1, DKK1, DLK1, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DMRT1, DMRT2, DMRT3, DMXL2, DNA2, DNAH1, DNAH10, DNAH17, DNAH2, DNAH6, DNAH8, DNAJC30, DNHD1, DNM1L, DNM2, DNMT3A, DOCK6, DOK7, DONSON, DPF2, DPY19L2, DRC1, DSE, DSPP, DUOX1, DUOX2, DUOXA1, DUOXA2, DUSP6, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DYRK1A, EBP, ECE1, ECEL1, EDN3, EDNRB, EED, EFEMP2, EFNB1, EGF, EHHADH, EHMT1, EIF2AK3, EIF2S3, EIF4A3, ELF4, ELN, EMG1, EMX2, ENG, ENO3, ENPP1, EOGT, EP300, EPB42, EPG5, EPM2A, EPS15L1, ERAL1, ERBB2, ERBB3, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERGIC1, ESCO2, ESR1, ESR2, ETHE1, ETV2, EVC, EVC2, EXOC6B, EXOSC9, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FANCM, FAT4, FBLN1, FBN1, FBN2, FBP1, FBXO43, FERMT3, FEZF1, FGD1, FGF16, FGF17, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FIGLA, FKBP10, FKBP6, FKTN, FLII, FLNA, FLNB, FLRT3, FMR1, FN1, FOXA2, FOXE1, FOXG1, FOXH1, FOXI1, FOXL2, FOXP3, FRAS1, FREM1, FREM2, FSHB, FSHR, FSIP2, FUCA1, FUT8, FUZ, FXYD2, FZD4, G6PC, GAA, GABBR2, GALE, GALK1, GALM, GALNS, GALNT3, GALT, GAS1, GATA1, GATA3, GATA4, GBE1, GC, GCGR, GCK, GCKR, GCM2, GDAP1, GDF2, GDF3, GDF5, GDF6, GDF9, GDNF, GFM1, GGN, GH1, GHR, GHRH, GHRHR, GHRL, GHSR, GJA1, GLB1, GLE1, GLI1, GLI2, GLI3, GLP1R, GLUD1, GMNN, GNA11, GNAS, GNPAT, GNPTAB, GNRH1, GNRHR, GNS, GORAB, GPC3, GPC4, GPC6, GPD2, GPR1, GPR101, GPR161, GPX4, GRB10, GRHL3, GRIP1, GTF2I, GTF2IRD1, GTF2IRD2, GUCY2C, GUSB, GYG1, GYS1, GYS2, GZF1, HADH, HADHA, HADHB, HARS2, HCCS, HCRT, HDAC4, HDAC6, HDAC8, HESX1, HFM1, HGSNAT, HHAT, HHEX, HMGA1, HMGA2, HMGCL, HMGCS2, HMOX1, HNF1A, HNF1B, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPC, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HS6ST1, HSD11B2, HSD17B1, HSD17B3, HSD17B4, HSD3B1, HSD3B2, HSPA9, HSPG2, HUWE1, HYAL1, IARS2, IBA57, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFNG, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IGF1, IGF1R, IGF2, IGF2BP2, IGFALS, IGFBP1, IGFBP3, IGSF1, IHH, IKBKG, IL11RA, IL17RD, IL2RA, IL2RG, IL6, IL7R, ILF3, INPP5E, INPP5K, INPPL1, INS, INSR, INTU, IQCE, IQCN, IQSEC2, IRF6, IRS2, ISL1, ITGA6, ITGB4, ITPR3, IYD, JAG1, KANSL1, KAT6A, KAT6B, KATNB1, KCNA1, KCNJ10, KCNJ11, KCNJ5, KCNJ8, KCNU1, KCTD1, KDELR2, KDM6A, KIAA0586, KIAA0825, KIAA1109, KIF11, KIF14, KIF22, KIF2A, KIF5C, KIF7, KISS1, KISS1R, KIT, KITLG, KLB, KLF11, KLHL10, KLHL3, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KRAS, KRT14, KRT5, KSR2, L1CAM, LAGE3, LAMA3, LAMB3, LAMC2, LAMP2, LARP7, LARS2, LAS1L, LAT2, LBR, LCTL, LDHA, LEMD3, LEP, LEPR, LEPROT, LFNG, LGI4, LHB, LHCGR, LHX1, LHX3, LHX4, LHX9, LIG4, LIMK1, LIN28A, LIPC, LMBR1, LMBRD1, LMNA, LMOD1, LMX1B, LONP1, LOXL3, LRP4, LRP5, LRP6, LRRK1, LTBP3, LY86, LZTFL1, LZTR1, M1AP, MACROH2A1, MAFA, MAFB, MAGEL2, MAGT1, MAMLD1, MAN2B1, MAP2K1, MAP2K2, MAP3K1, MAPK8IP1, MASP1, MATN3, MAU2, MBD5, MBTPS2, MC2R, MC3R, MC4R, MCM4, MCM5, MCM8, MCM9, MCPH1, MECP2, MED12, MED13, MED30, MEFV, MEGF8, MEI1, MEIOB, MEIS2, MEN1, MEOX1, MESD, METTL27, MGAT2, MGP, MID1, MITF, MKKS, MKRN3, MKS1, MLXIPL, MMACHC, MMP1, MMP13, MMP14, MMP2, MMP9, MOV10L1, MPI, MPV17, MRAP, MRAS, MRPS22, MSH4, MSH5, MSMO1, MSX2, MTAP, MTHFR, MTNR1B, MTOR, MTRR, MUSK, MVK, MYBPC1, MYCN, MYH3, MYH8, MYMK, MYO18B, MYO5B, MYOD1, MYT1, NAA10, NAGLU, NALCN, NANOS1, NANS, NBN, NCF1, NDE1, NDN, NDNF, NDP, NDRG1, NEB, NEBL, NEK1, NEK9, NEPRO, NEU1, NEUROD1, NEUROD4, NEUROG3, NEXMIF, NF1, NF2, NFIX, NHLRC1, NHP2, NIN, NIPA2, NIPBL, NKX2-1, NKX2-5, NKX3-2, NLRP3, NLRP5, NNT, NOBOX, NODAL, NOG, NONO, NOP10, NOTCH1, NOTCH2, NPAP1, NPHP1, NPM1, NPPC, NPR2, NPR3, NPY, NR0B1, NR3C1, NR3C2, NR5A1, NRAS, NRTN, NRXN1, NSD1, NSDHL, NSMCE2, NSMF, NSUN2, NTNG1, NTRK2, NUP107, NUP133, NUP214, NUP85, NUP88, NUS1, OAS1, OASL, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTUD4, OTUD6B, OTX2, OXCT1, OXT, P3H1, P4HB, PAFAH1B1, PAH, PAM16, PAPPA2, PAPSS2, PARN, PAX2, PAX3, PAX4, PAX6, PAX8, PC, PCBD1, PCDH12, PCK1, PCNT, PCSK1, PCSK2, PCYT1A, PDE3A, PDE4D, PDGFRB, PDHA1, PDHA2, PDX1, PERCC1, PEX14, PEX19, PEX26, PEX5, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PHEX, PHF6, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHOX2B, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R1, PIK3R2, PIP5K1C, PISD, PITX1, PITX2, PLAG1, PLAGL1, PLCG1, PLEKHM1, PLK4, PLOD2, PLS3, PLVAP, PLXND1, PNLDC1, PNPLA6, POC1A, POF1B, POGZ, POLE, POLG, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POLR3GL, POLR3H, POMC, PON1, POP1, POR, PORCN, POU1F1, PPARGC1A, PPIB, PPP1CB, PPP1R15B, PPP1R3A, PPP2R5D, PPP3CA, PRF1, PRKACA, PRKACB, PRKAG2, PRKAR1A, PRL, PRLHR, PRMT7, PROK2, PROKR2, PROP1, PRPS1, PSAT1, PSMC3IP, PSMC5, PTCH1, PTCH2, PTDSS1, PTEN, PTF1A, PTH, PTH1R, PTHLH, PTPN1, PTPN11, PTPN22, PTRH2, PUF60, PUS1, PYCR1, PYGL, PYGM, QRICH2, RAB18, RAB23, RAB33B, RAB3GAP1, RAB3GAP2, RAD21, RAF1, RAG1, RAG2, RAI1, RAP1A, RAP1B, RAPSN, RASA1, RASA2, RBBP8, RBCK1, RBM10, RBM28, RBM8A, RBP4, RBPJ, RECQL4, RELN, RET, RETN, REV3L, RFC2, RHOA, RIGI, RIPK4, RIT1, RLIM, RNF113A, RNF135, RNF212, RNF216, RNPC3, ROR2, RPL10, RPL10L, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRAS, RRAS2, RSPO1, RSPRY1, RTEL1, RTTN, RUNX2, RXRA, RXRB, RXRG, RYR1, SALL1, SALL4, SAMD9, SARS2, SATB2, SBDS, SC5D, SCAPER, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDC3, SDCCAG8, SEC24D, SECISBP2, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA7A, SERPINA7, SERPINF1, SERPINH1, SETD2, SETD5, SF1, SF3B2, SFRP4, SGMS2, SGPL1, SGSH, SH2B1, SH3BP2, SH3PXD2B, SHH, SHOC1, SHOC2, SHOX, SIM1, SIN3A, SIX2, SIX3, SKI, SKIC3, SKIV2L, SLC10A2, SLC12A3, SLC13A1, SLC16A1, SLC16A2, SLC17A5, SLC18A3, SLC26A2, SLC26A3, SLC26A4, SLC29A3, SLC2A1, SLC2A2, SLC30A8, SLC34A1, SLC34A3, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC46A1, SLC4A1, SLC5A1, SLC5A5, SLC5A8, SLC9A3, SLC9A3R1, SLCO1B1, SLCO1B3, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMAD6, SMAD9, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMCHD1, SMO, SNAI2, SNRPB, SNRPN, SNX10, SOHLH1, SOS1, SOS2, SOST, SOX10, SOX11, SOX2, SOX3, SOX4, SOX9, SP7, SPAG17, SPARC, SPECC1L, SPIDR, SPINK1, SPINK5, SPINT2, SPRED1, SPRED2, SPRY4, SPTA1, SPTB, SRA1, SRCAP, SRD5A2, SRD5A3, SREBF1, SRY, SSTR2, STAG3, STAR, STAT3, STAT5B, STH, STT3A, STT3B, STUB1, STX16, STX1A, STXBP1, SUFU, SULF1, SUMF1, SUMO4, SYCE1, SYCP2, SYCP3, SYNE1, TAC1, TAC3, TACR3, TAF1, TAF13, TAF4B, TAFAZZIN, TAPT1, TAX1BP3, TBC1D20, TBCE, TBCK, TBL1X, TBL2, TBX1, TBX15, TBX19, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCF4, TCF7L2, TCIRG1, TCOF1, TCTN2, TCTN3, TDGF1, TDRD9, TELO2, TENT5A, TERB1, TERB2, TERC, TERT, TEX11, TEX14, TEX15, TFAP2A, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, THRA, THRB, THRSP, TINF2, TMCO1, TMEM165, TMEM270, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNNI2, TNNT3, TONSL, TOP3A, TP53RK, TP63, TPM2, TPO, TPRKB, TRAF3IP1, TRAIP, TRAPPC2, TRAPPC9, TRH, TRHR, TRIM32, TRIM37, TRIP11, TRIP13, TRIP4, TRMT10A, TRPM6, TRPS1, TRPV4, TRPV6, TSHB, TSHR, TSPAN12, TSR2, TTC21B, TTC8, TUB, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, TWIST1, TWIST2, TWNK, TXNRD2, UBA1, UBE2A, UBE3A, UBR1, UCP1, UCP3, UGT1A1, UNC80, USB1, USH2A, VAMP7, VANGL2, VCP, VDR, VIPAS39, VPS13B, VPS33A, VPS33B, VPS37D, WDPCP, WDR11, WDR19, WDR35, WDR4, WDR73, WFS1, WNT1, WNT10B, WNT3A, WNT4, WNT5A, WNT7A, WRAP53, WT1, WWOX, XRCC2, XRCC4, XYLT1, XYLT2, YWHAE, ZBTB18, ZBTB20, ZC4H2, ZEB2, ZFAT, ZFP57, ZFPM2, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND15, ZNF141, ZNF335, ZPBP, ZSWIM6, ZSWIM7, ZYG11B
Kontaktní osoba: Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Spiros Tavandzis
Poznámka: virtuální panel Gama ENDO_KOSTI_OBEZITY_v1
Virtuální panel Familiární hypercholesterolémie a dyslipidémie (35) (Klinický exom (CES))
ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA4, APOA5, APOB, APOC2, APOC3, APOE, CETP, CREB3L3, GCKR, GPD1, GPIHBP1, LDLR, LDLRAP1, LIPA, LIPC, LIPE, LIPG, LIPI, LMF1, LPL, MTTP, MYLIP, NPC1L1, PCSK9, PLIN1, PPARA, PPARG, SCARB1, SORT1, STAP1
Kontaktní osoba: Ing. Bóday, Mgr. Hana Kuchařová
Poznámka: virtuální panel Gama DYSLIPIDÉMIEv1
Virtuální panel Hereditární nádorové syndromy (CZECANCA v1.2) (225) (Klinický exom (CES))
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. Veronika Krhutová, RNDr. Peter Vasovčák, Ph.D.
Poznámka: virtuální panel Gama CZEv1
Virtuální panel Hereditární pankreatitida (3) (Klinický exom (CES))
CFTR, CTRC, SPINK1
Kontaktní osoba: Mgr. Hrazděrová, Mgr. Brožová
Poznámka: virtuální panel Gama HP_v1
Virtuální panel Kardiogenetika (220) (Klinický exom (CES))
ABCC8, ABCC9, ACADVL, ACTC1, ACTN2, ACVRL1, AGL, AKAP9, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, APOA2, APOC2, APOC3, AQP1, ATP13A3, B2M, BAG3, BMPR1B, BMPR2, BRAF, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CAVIN4, CBL, CDH2, CHRM2, CITED2, CRELD1, CRYAB, CSRP3, CST3, CTF1, CTNNA3, CUL4B, DES, DMD, DNAJC19, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, EMD, ENG, EPG5, EYA4, FGA, FGF12, FHL1, FHL2, FHOD3, FKTN, FLII, FLNC, FLT4, FOXF1, GAA, GATA4, GATA5, GATA6, GATAD1, GJA1, GJA5, GLA, GNB2, GPD1L, GSN, GYG1, HAND1, HCN4, HRAS, ILK, JAG1, JPH2, JUP, KAT6B, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KLF2, KMT2D, KRAS, LAMA4, LAMP2, LDB3, LMNA, LMOD2, 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, NOTCH3, NPPA, NR2F2, NRAP, NRAS, NUP155, OBSCN, PDLIM3, PKP2, PLN, PLXND1, PPA2, PPCS, PPP1CB, PRDM16, PRDM6, PRKAG2, PTPN11, RAF1, RANGRF, RASA2, RBCK1, RBM20, RIT1, RPL3L, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCNN1A, SCO2, SDHA, SEMA3A, SGCD, SGCG, SHOC2, SLC22A5, SLC4A3, SLMAP, SMAD3, SNTA1, SOS1, SOS2, STAG2, SYNE2, TAF1A, TAFAZZIN, 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, VEZF1, ZFPM2
Kontaktní osoba: Mgr. Hrazděrová; Ing. Klára Herkommerová, Ph.D.
Poznámka: virtuální panel Gama KARDIO_v1
Virtuální panel Kožní onemocnění (92) (Cílený panel)
AAGAB, ABCA12, ABHD5, ADAMTS17, 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. Brožová (Skočková)
Poznámka: virtuální panel Gama KOŽNÍ ONEMOCNĚNÍ_v1
Virtuální panel Makrocefalie, mikrocefalie a mentální retardace (948) (Klinický exom (CES))
A2ML1, AAAS, ABCC9, ABCD1, ABCD4, ABL1, ACAN, ACD, ACTB, ACTG1, ACVR1, ACVRL1, ADA2, ADAMTSL4, ADCY6, ADCY8, ADGRG1, ADNP, AFF2, AFF4, AGGF1, AGMO, AGTPBP1, AIMP2, AKT1, AKT2, AKT3, ALDH18A1, ALDH6A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALX1, ALX3, ALX4, AMPD2, ANAPC1, ANK1, ANKLE2, ANKRD11, ANOS1, ANTXR2, AP1S2, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, AR, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF2, ARID1A, ARID1B, ARID2, ARNT2, ARX, ASCC1, ASCL1, ASNS, ASPA, ASPM, ASXL1, ASXL2, ASXL3, ATM, ATP5F1A, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATR, ATRIP, ATRX, AUTS2, B3GALT6, B3GAT3, B4GALT1, BBS9, BCAP31, BCL11A, BCL11B, BCOR, BCS1L, BICD2, BMP2, BMPR1B, BPTF, BRAF, BRAT1, BRD4, BRF1, BRPF1, BRWD3, BTD, BTG2, BTRC, C2CD3, CA2, CAMK2B, CAMK2G, CASK, CASR, CBL, CBS, CCDC115, CCDC141, CCDC47, CCDC8, CCDC88A, CCL2, CCND2, CD96, CDC42, CDC45, CDC6, CDH3, CDK19, CDK5, CDK5RAP2, CDK6, CDKL5, CDKN1C, CDON, CDT1, CENPE, CENPF, CENPJ, CEP120, CEP135, CEP152, CEP164, CEP63, CEP85L, CFTR, CHD2, CHD4, CHD8, CHMP1A, CHRNA1, CHRND, CHRNG, CHST14, CIT, CKAP2L, CLCN7, CLIC2, CLP1, CLPB, CLPP, CNKSR2, CNTN1, CNTNAP1, CNTNAP2, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL11A1, COL11A2, COL17A1, COL2A1, COL4A1, COL7A1, COL9A1, COL9A2, COLEC10, COLEC11, COMP, COPB2, COX7B, CRADD, CREBBP, CRIPT, CSNK2A1, CTC1, CTCF, CTNNA2, CTNNB1, CTRC, CTSD, CTU2, CUL4B, CUL7, CYB5R3, CYP11B1, CYP17A1, CYP21A2, D2HGDH, DCPS, DCTN1, DCX, DDOST, DDX3X, DEAF1, DHCR24, DHCR7, DHDDS, DIAPH1, DICER1, DIS3L2, DISP1, DKC1, DLL1, DLL4, DLX5, DLX6, DNA2, DNM1L, DNM2, DNMT3A, DOCK6, DOK7, DOLK, DONSON, DPAGT1, DPF2, DPM1, DPM2, DPP6, DSE, DUSP6, DYM, DYNC1H1, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DYRK1A, ECE1, ECEL1, EDN3, EDNRB, EED, EEF1A2, EFEMP2, EFL1, EFNB1, EFTUD2, EIF2B1, EIF2S3, EMG1, EMX2, ENG, EOGT, EOMES, EP300, EPB42, EPG5, EPS15L1, ERBB2, ERBB3, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERGIC1, ESCO2, EVC, EVC2, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, EZH2, FAM20C, FAR1, FARS2, FBLN1, FBN1, FBN2, FCSK, FEZF1, FGD1, FGF16, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKRP, FKTN, FLII, FLNA, FLNB, FLRT3, FMR1, FOXG1, FOXH1, FOXL2, FREM1, FRMD4A, FSHB, FTSJ1, FUT8, FUZ, G6PC3, GABBR2, GABRB2, GALNT2, GAS1, GATA1, GCDH, GDF2, GDF3, GDF5, GDF6, GDNF, GEMIN4, GFAP, GFM1, GJA1, GLE1, GLI1, GLI2, GLI3, GMNN, GMPPB, GNAS, GNRH1, GNRHR, GPC3, GPC4, GPR101, GPT2, GRHL3, GRIA3, GRIN2A, GRIN2B, GRM3, GTPBP2, HCCS, HCFC1, HDAC8, HEPACAM, HERC1, HESX1, HEXA, HMGA2, HMGB3, HNRNPH2, HOXD13, HRAS, HS6ST1, HSD3B2, HUWE1, HYAL1, IBA57, IDH1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFNG, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IGBP1, IGF1, IGF1R, IGF2, IHH, IKBKG, IL17RD, INPP5K, IQCE, IQSEC2, IRF6, IRS1, ITGA6, ITGB4, JAG1, KAT6A, KAT6B, KATNB1, KCNA4, KCNQ1, KCNT1, KCTD1, KDM1A, KDM5C, KDM6A, KIAA0586, KIAA1109, KIF11, KIF14, KIF1A, KIF22, KIF2A, KIF5C, KIF7, KIFBP, KISS1, KISS1R, KIT, KITLG, KLHL7, KMT2A, KMT2B, KMT2D, KNL1, KPTN, KRAS, KRT14, KRT5, L1CAM, LAGE3, LAMA3, LAMB1, LAMB3, LAMC2, LARGE1, LARGE2, LARP7, LAS1L, LAT, LEP, LEPR, LEPROT, LGI4, LHB, LHX3, LHX4, LIAS, LIG4, LINGO1, LINS1, LMBR1, LMBRD1, LMNB1, LMX1B, LRP5, LZTR1, MACF1, MAGEL2, MAGT1, MAP2K1, MAP2K2, MASP1, MAU2, MBD5, MBTPS2, MC2R, MC3R, MC4R, MCM4, MCM5, MCPH1, MECP2, MED12, MED17, MEF2C, MEFV, MEGF8, MEIS2, MEN1, MEOX1, METTL5, MFF, MFSD2A, MGAT2, MID1, MINPP1, MITF, MLC1, MMACHC, MMADHC, MMP1, MOGS, MPDU1, MPDZ, MPI, MPP5, MRAS, MSMO1, MSX2, MTHFD1, MTHFR, MTOR, MTR, MTRR, MUSK, MVK, MYBPC1, MYCN, MYH3, MYH8, MYO18B, MYO5A, MYOD1, MYT1, NAA10, NALCN, NANS, NAT8L, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NDN, NEB, NEFH, NEK1, NEK9, NEXMIF, NF1, NF2, NFIA, NFIX, NGLY1, NHEJ1, NHP2, NIN, NIPBL, NODAL, NOG, NONO, NOP10, NOTCH1, NOTCH2, NPM1, NPRL2, NR0B1, NR0B2, NRAS, NRTN, NRXN1, NSD1, NSDHL, NSMCE2, NSMF, NSUN2, NTNG1, NUP107, NUP133, NUP37, NUP88, NUS1, OBSL1, OCLN, OFD1, OPHN1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTUD6B, OTX2, PAFAH1B1, PAH, PAK3, PARD3, PARD6A, PARN, PAX3, PAX6, PCDH12, PCLO, PCNT, PDE3A, PDE4D, PDGFRB, PDHA1, PGAP2, PHC1, PHF6, PHF8, PHGDH, PHOX2B, PIEZO2, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PIP5K1C, PLAA, PLAG1, PLEKHG2, PLEKHM1, PLK4, PMM2, PNKP, POC1A, POGZ, POLG, POLH, POLR1A, POLR1B, POLR1C, POLR1D, POMC, POMGNT1, POMT1, POMT2, POR, POU1F1, PPARG, PPP1CB, PPP1R15B, PPP2R5B, PPP2R5C, PPP2R5D, PPT1, PQBP1, PRDX1, PRF1, PRKACG, PRKAR1A, PRKCA, PRMT7, PROK2, PROKR2, PROP1, PRPH, PRPS1, PRUNE1, PSAT1, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, PTRH2, PUF60, PUS1, PYCR1, PYCR2, QARS1, RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAD21, RAF1, RAI1, RAP1A, RAP1B, RAPSN, RARS2, RASA1, RASA2, RBBP8, RBM8A, RBMX, RBPJ, RECQL4, RELN, REST, RET, RFT1, RIN2, RIPK4, RIT1, RLIM, RNASEH2C, RNASET2, RNF113A, RNF125, RNF135, ROR2, RPL10, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRAS, RRAS2, RSPRY1, RTEL1, RTTN, RUSC2, RYR1, SALL1, SALL4, SAMD9, SAMHD1, SARS1, SASS6, SATB2, SBDS, SBF1, SC5D, SCARF2, SCN1A, SCN3A, SCRIB, SEC23B, SEM1, SEMA3A, SEMA3C, SEMA3D, SEPSECS, SETD2, SETD5, SF3B2, SH2B1, SHH, SHOC2, SHOX, SHROOM4, SIM1, SIN3A, SIX3, SLC16A2, SLC18A3, SLC19A2, SLC19A3, SLC1A4, SLC25A1, SLC25A19, SLC25A46, SLC26A2, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A8, SLC4A1, SLC9A6, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMO, SMS, SNAI2, SNAP29, SNRPB, SOD1, SOS1, SOS2, SOST, SOX10, SOX11, SOX2, SOX3, SOX4, SOX9, SPATA5, SPECC1L, SPINK1, SPRED1, SPRY4, SPTA1, SPTAN1, SPTB, SRCAP, SREBF1, SSR4, ST3GAL5, STAG2, STAMBP, STAR, STIL, STRADA, STT3A, STT3B, STXBP1, SUFU, SUZ12, SYN1, SYNE1, SYNGAP1, TAC3, TACR3, TAF1, TAF13, TAF2, TAPT1, TBC1D20, TBC1D23, TBC1D7, TBCD, TBCE, TBCK, TBX1, TBX5, TBXT, TCF12, TCF20, TCF4, TCIRG1, TCOF1, TCTN2, TCTN3, TDGF1, TELO2, TERC, TERT, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, THOC2, THOC6, TINF2, TMEM165, TMEM199, TMEM94, TMTC3, TNFSF11, TNNI2, TNNT3, TOE1, TOP3A, TP53RK, TP63, TPK1, TPM2, TPRKB, TRAIP, TRAPPC14, TRAPPC6B, TRAPPC9, TREX1, TRIO, TRIP11, TRIP13, TRIP4, TRIT1, TRMT10A, TRPS1, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TSR2, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, TUSC3, TWIST1, UBA1, UBA5, UBE2A, UBE3A, UBE3B, UCP2, UFM1, UGT1A1, UNC80, UPF3B, USB1, USH2A, VANGL1, VANGL2, VARS1, VIPAS39, VLDLR, VPS11, VPS13B, VPS33B, VPS4A, VPS53, VRK1, WDFY3, WDR11, WDR19, WDR35, WDR4, WDR45B, WDR62, WDR73, WNT10B, WNT7A, WRAP53, WWOX, XRCC4, YWHAE, ZBTB16, ZBTB18, ZBTB20, ZBTB7A, ZC4H2, ZDHHC9, ZEB2, ZIC1, ZIC2, ZIC3, ZNF141, ZNF335, ZYG11B
Kontaktní osoba: Mgr. Markéta Kateřiňáková, Mgr. Pavla Christelová, Ph.D., Mgr. Spiros Tavandzis
Poznámka: virtuální panel Gama MAKRO_MIKRO_MR_v1
Virtuální panel Nefrogenetika a ciliopatie (573) (Klinický exom (CES))
ABCA3, ABCB11, ABCB4, ABCC12, ABCC2, ABCC6, ABCG2, ACE, ACTA2, ACTG2, ACTN4, ACVR2B, ACVRL1, ADAMTS13, ADAMTS9, ADCY10, AGPAT2, AGT, AGTR1, AGXT, AHI1, AK7, AKR1D1, ALG5, ALG8, ALG9, ALMS1, ALPL, AMACR, ANKFY1, ANKS3, ANKS6, ANLN, ANOS1, AP2S1, APOA1, APOA2, APOC2, APOC3, APOL1, APP, APRT, AQP2, AR, ARHGAP24, ARHGDIA, ARL13B, ARL3, ARL6, ARMC9, ATP1A1, ATP6V0A4, ATP6V1B1, ATP7B, ATP8B1, AVIL, AVP, AVPR2, B2M, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL9L, BICC1, BLK, BMP4, BMP7, BMPR1B, BMPR2, BNC2, BRAF, BSND, C2, C2CD3, C3, C3AR1, CA2, CACNA1A, CASR, CAT, CAV1, CBLN2, CC2D1A, CC2D2A, CCDC103, CCDC39, CCDC40, CCDC65, CCND1, CCNO, CCNQ, CD151, CD2AP, CD36, CD46, CDC5L, CDC73, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFAP20DC, CFAP221, CFAP298, CFAP300, CFAP410, CFAP418, CFAP47, CFAP52, CFAP53, CFAP54, CFAP57, CFAP74, CFB, CFC1, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CHD1L, CHD7, CHRM3, CHRNA3, CIROP, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CPLANE1, CR2, CRB2, CRELD1, CRKL, CSF2RA, CSF2RB, CSPP1, CST3, CTNS, CTU2, CUBN, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP24A1, CYP3A5, CYP7B1, DAAM2, DACT1, DAW1, DCDC2, DDX59, DGKE, DHCR7, DLC1, DMP1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH10, DNAH11, DNAH14, DNAH17, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DRC1, DSTYK, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DZIP1L, EGF, EHHADH, EIF2AK4, EMP2, EMX2, ENG, ENPP1, EVC, EVC2, EXOC3L2, EYA1, FAH, FAM111A, FAM149B1, FAM20A, FAN1, FAS, FASLG, FAT1, FBN3, FGA, FGF20, FGF23, FGFR1, FGFR2, FLNA, FN1, FOXC1, FOXE1, FOXI1, FOXJ1, FRAS1, FREM1, FREM2, FXYD2, G6PC1, GALNT3, GANAB, GAPVD1, GAS2L2, GAS8, GATA3, GATM, GDF1, GDNF, GFRA1, GLA, GLI3, GLIS2, GLIS3, GNA11, GNB3, GPC3, GREB1L, GREM1, GRHPR, GRIP1, GRK2, GSN, GUCY2D, HAAO, HNF1B, HNF4A, HOGA1, HPRT1, HPSE2, HSD11B2, HYDIN, HYLS1, IFIH1, IFNG, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT56, IFT74, IFT80, IFT81, ILK, INF2, INPP5E, INVS, IQCB1, ITCH, ITGA3, ITGA8, JAG1, KANK1, KANK2, KANK4, KAT6B, KATNIP, KCNA1, KCNA5, KCNJ1, KCNJ10, KCNJ5, KCNK3, KIAA0586, KIAA0753, KIF12, KIF14, KIF3B, KIF7, KL, KLHL3, KMT2D, KRIT1, KYNU, LAMA5, LAMB2, LDHD, LEFTY2, LMX1B, LRIG2, LRP2, LRP4, LRP5, LRRC56, LSR, LYZ, LZTFL1, MAGED2, MAGI2, MAPKBP1, MCIDAS, MEGF8, MKKS, MKS1, MMACHC, MMP21, MNS1, MOCOS, MOCS1, MTHFD1, MUC1, MUC5B, MYH9, MYO1E, MYO5B, MYOCD, NADSYN1, NDUFAF6, NEK1, NEK10, NEK8, NFIA, NFU1, NHERF1, NIPBL, NKX2-1, NKX2-5, NME5, NME7, NME8, NODAL, NOS1AP, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR1H4, NR3C2, NRIP1, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP93, OCRL, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, OSGEP, OSTC, OTOF, OXGR1, PAX2, PAX8, PBX1, PCARE, PCBD1, PDE3A, PDE6B, PDE6D, PHEX, PIBF1, PKD1, PKD1L1, PKD2, PKHD1, PLCE1, PLG, PLK4, PLXND1, PMM2, PNPLA6, PODXL, PREPL, PRKCD, PRKCSH, PTPN22, PTPRO, PUF60, RAG2, REN, RET, RMND1, ROBO1, ROBO2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRAGD, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SARS2, SCAPER, SCARB2, SCLT1, SCN1A, SCNN1A, SCNN1B, SCNN1G, SCYL1, SDCCAG8, SEC61A1, SEC61B, SEC63, SFTPA1, SFTPA2, SFTPB, SFTPC, SGPL1, SHROOM3, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC17A3, SLC22A12, SLC25A13, SLC26A1, SLC26A4, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC37A4, SLC3A1, SLC4A1, SLC4A4, SLC51A, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A9, SLIT2, SLIT3, SMAD4, SMAD9, SMARCAL1, SOX17, SPAG1, SPAG6, SPEF2, SPRY2, SRCAP, STIM1, STING1, STK36, SUFU, SYNPO, TBC1D8B, TBX18, TBX4, TCTN1, TCTN2, TCTN3, TEKT1, TFAP2A, TH, THBD, THRA, THRB, TJP2, TMEM107, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS3, TOGARAM1, TOPORS, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRIM8, TRPC6, TRPM6, TRPM8, TSC1, TSC2, TSHR, TTC12, TTC21B, TTC8, TTR, TULP1, TXNDC15, ULK4, UMOD, UNC45A, UPK3A, USP53, USP9X, UTRN, VHL, VIPAS39, VPS33B, VTN, WDPCP, WDR19, WDR35, WDR72, WDR73, WHRN, WNK1, WNK4, WNT11, WNT4, WNT9B, WT1, XDH, XPNPEP3, ZFYVE19, ZIC3, ZMYND10, ZNF423
Kontaktní osoba: Mgr. Vaníčková, Ing. Bóday, Mgr. Kudělková
Poznámka: virtuální panel Gama NEFRO_v1
Virtuální panel Onemocnění a vady očí (574) (Klinický exom (CES))
ABCA1, ABCA4, ABCB6, ABHD12, ACBD5, ACO2, ACTG1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRV1, ADIPOR1, AFG3L2, AGBL1, AGBL5, AGK, AHI1, AHR, AIPL1, ALDH18A1, ALDH1A3, ALMS1, ALPK1, AMACR, ANGPT1, AP3B1, AP3D1, ARHGEF18, ARL2, ARL2BP, ARL3, ARL6, ARMC9, ARMS2, ARR3, ARSG, ASB10, ATAD3A, ATF6, ATOH7, ATP1A2, ATP1A3, AUH, B3GALNT2, B3GLCT, B3GNT1, B4GAT1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BDNF, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S5, BLOC1S6, BMP4, C12orf57, C19orf12, C1QTNF5, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CAPN5, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP120, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFAP418, CFB, CFH, CFHR1, CFHR3, CFI, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2, CISD2, CLCC1, CLDN19, CLEC3B, CLN3, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL25A1, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, CP, CPAMD8, CRB1, CRIM1, CRPPA, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CST3, CTC1, CTDP1, CTNNA1, CTNNB1, CWC27, CX3CR1, CYP1B1, CYP4V2, DAG1, DCN, DCT, DHCR7, DHDDS, DHS6S1, DHX38, DNAJC30, DNM1L, DNMBP, DRAM2, DTNBP1, EDN3, EDNRB, EED, EFEMP1, ELOVL4, ELP4, EPHA2, ESPN, EXOSC2, EYA1, EYS, FAM161A, FAR1, FBLN5, FBN1, FBN2, FDXR, FGF14, FKRP, FKTN, FLRT1, FLVCR1, FOXC1, FOXD3, FOXE3, FOXL2, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, FZD5, GALE, GALK1, GALT, GCNT2, GDF3, GDF6, GEMIN4, GFER, GJA1, GJA3, GJA8, GJC2, GLS, GMPPB, GNAT1, GNAT2, GNB3, GPR143, GPR179, GRHL2, GRK1, GRM6, GSN, GUCA1A, GUCA1B, GUCY2D, GZF1, HARS1, HCCS, HGSNAT, HK1, HKDC1, HMCN1, HMGB3, HMX1, HOXA1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA1, HYCC1, IARS2, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IFT88, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, INTS1, INVS, IQCB1, ISCA2, ITM2B, ITPR1, JAG1, KCNJ13, KCNV2, KERA, KIAA1549, KIF11, KIF21A, KIF3B, KIT, KITLG, KIZ, KLC2, KLHL7, KRT12, KRT3, LAMA1, LARGE1, LCA5, LCAT, LEMD2, LIM2, LMX1B, LONP1, LOXL1, LOXL3, LRAT, LRIT3, LRMDA, LRP2, LRP5, LRPAP1, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAFB, MAK, MAPKAPK3, MC1R, MCAT, MECR, MED25, MERTK, MFN2, MFRP, MFSD8, MIEF1, MIP, MIR184, MIR204, MITF, MKKS, MKS1, MLPH, MSTO1, MTPAP, MTRFR, MVK, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NDUFAF3, NDUFB11, NDUFS1, NDUFS2, NEK2, NF2, NHS, NMNAT1, NOP10, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OTX2, OVOL2, P3H2, P4HA2, PAK2, 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, PGRMC1, PHOX2A, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLP1, PNPLA6, POC1B, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PRCD, PRDM13, PRDM5, PRIMPOL, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PSMC3, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIGI, RIMS1, RIMS2, RLBP1, ROBO1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RS1, RTN4IP1, RXYLT1, SAG, SALL2, SALL4, SAMD11, SAMD7, SC5D, SCAPER, SCLT1, SCO2, SDCCAG8, SEMA4A, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX6, SLC16A12, SLC19A2, SLC24A1, SLC24A5, SLC25A4, SLC25A46, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC52A2, SLC66A1, SLC6A6, SLC7A14, SLITRK6, SMOC1, SNAI2, SNRNP200, SNX10, SOX10, SOX2, SPATA7, SPG7, SPP2, SRD5A3, SSBP1, STN1, STRA6, STS, TACSTD2, TBC1D20, TBK1, TCF4, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFBI, TIMM8A, TIMP3, TKFC, TLCD3B, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TMEM98, TOPORS, TRAF3IP1, TREX1, TRIM32, TRIM44, TRNT1, TRPM1, TRPM3, TSFM, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBB4B, TULP1, TWNK, TYR, TYRP1, UBIAD1, UCHL1, UNC119, UNC45B, USH1C, USH1G, USH2A, USP45, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR36, WDR37, WFS1, WHRN, WRN, WT1, XYLT2, YAP1, YME1L1, ZEB1, ZNF408, ZNF423, ZNF513, ZNF644, ZNHIT3
Kontaktní osoba: Ing. Mgr. Jašková, Mgr. Rašková
Poznámka: virtuální panel Gama OČI_v1
Virtuální panel Onemocnění pojivových tkání (153) (Klinický exom (CES))
ABCC6, ABL1, ACTA2, ACVRL1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, AEBP1, ALDH18A1, ANGPTL6, APC2, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, BRCC3, C1R, C1S, CASK, CBL, CBS, CCDC134, CCER2, CCM2, CHD4, CHST14, CNOT3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL9A1, COL9A2, CREB3L1, CRTAP, DIAPH1, DLG4, DSE, EFEMP2, ELN, EMILIN1, ENG, ENPP1, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLCN, FLNA, FLNB, FOXE3, GATA4, GATA5, GDF2, GGCX, GORAB, GUCY1A1, HEY2, HPGD, IFITM5, IPO8, KDELR2, KRIT1, LOX, LOXL2, LRP5, LTBP1, LTBP2, LTBP4, MAT2A, MBTPS2, MED12, MESD, MFAP5, MYH11, MYLK, NBAS, NF1, NFIX, NKX2-5, NOD2, NOTCH1, NSD1, NTRK1, P3H1, P4HA1, P4HB, 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, THSD4, TMEM38B, TNXB, UPF3B, WNT1, XYLT1, XYLT2, ZDHHC9, ZNF469
Kontaktní osoba: Mgr. Brožová (Skočková), RNDr. Fišer
Poznámka: virtuální panel Gama POJIVA_v1
Virtuální panel Poruchy sluchu (260) (Klinický exom (CES))
ABCC1, ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AFG2B, AIFM1, ARSG, ATOH1, ATP11A, ATP2B2, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BMP4, BSND, BTD, CABP2, CACNA1D, CCDC50, CCS, CD164, CDC14A, CDH23, CDK10, CDK13, CEACAM16, CENPP, 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, DNAJC3, DNMT1, EDN3, EDNRB, ELMOD3, EPHA10, EPHA2, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR3, FOXI1, GAB1, GAS2, GATA2, GATA3, GGPS1, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB6, GPR156, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, GZF1, HARS1, HARS2, HGF, HOMER2, HOXA1, HOXA2, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LOXL3, LRP2, LRTOMT, MAFB, MAN2B1, MAP1B, MAP3K20, MARVELD2, MCM2, MET, MINAR2, MIR96, MITF, MPZ, MPZL2, MRPS7, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO3A, MYO6, MYO7A, NARS2, NDP, NF2, NLRP3, NOP10, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PBX1, PCDH15, PCNA, PDE1C, PDSS1, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PI4KB, PJVK, PKHD1L1, PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PROP1, PRPS1, PSMC3, PTGS1, PTPRQ, RDX, REST, RIPOR2, RMND1, ROR1, RRM2B, S1PR2, SALL1, SCARB2, SCD5, SEC31A, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMOC1, SMPX, SNAI2, SOX10, SOX2, SPATC1L, SPNS2, STRC, STX4, SYNE4, TBC1D24, TECTA, TFAM, TFAP2A, TFB1M, THOC1, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TMTC4, TNC, TPRN, TRIOBP, TRMU, TRRAP, TSPEAR, TUBB4B, TWNK, TYR, USH1C, USH1G, USH2A, USP48, VIPAS39, VPS33B, WBP2, WFS1, WHRN, YARS1, ZEB2
Kontaktní osoba: Mgr. Tavandzis, Ing. Mgr. Jašková, Mgr. Rašková
Poznámka: virtuální panel Gama HLUCHOTA_v1
virtuální panel Vzácná onemocnění ALL (1650) (Klinický exom (CES))
A2ML1, AAAS, AARS1, AARS2, ABCC2, ABCC8, ABCC9, ABCD1, ABCD4, ABL1, ACADM, ACAN, ACAT1, ACD, ACP5, ACSF3, ACTB, ACTG1, ACVR1, ACVRL1, ADA, ADA2, ADAMTSL2, ADAMTSL4, ADCY6, ADCY8, ADGRG1, ADIPOQ, ADNP, ADRB2, ADRB3, AEBP1, AFF2, AFF4, AGA, AGGF1, AGL, AGMO, AGPS, AGRP, AGTPBP1, AIFM1, AIMP2, AIRE, AK7, AKR1C2, AKR1C4, AKT1, AKT2, AKT3, ALDH18A1, ALDH6A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALX1, ALX3, ALX4, AMER1, AMH, AMHR2, AMPD2, AMY1A, ANAPC1, ANK1, ANKH, ANKLE2, ANKRD11, ANO5, ANOS1, ANTXR2, AP1S1, AP1S2, AP2S1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APPL1, AQP2, AR, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF2, ARID1A, ARID1B, ARID2, ARL6, ARMC5, ARNT2, ARSB, ARSL, ARX, ASCC1, ASCL1, ASNS, ASPA, ASPM, ASXL1, ASXL2, ASXL3, ATAD3A, ATM, ATP5F1A, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, ATR, ATRIP, ATRX, AURKC, AUTS2, AVP, AVPR1A, AVPR1B, AVPR2, AXL, B3GALT6, B3GAT3, B4GALT1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCL11A, BCL11B, BCL7B, BCOR, BCS1L, BDNF, BGN, BHLHA9, BICD2, BLK, BLVRA, BMP1, BMP15, BMP2, BMP4, BMPER, BMPR1B, BNC1, BPNT2, BPTF, BRAF, BRAT1, BRD4, BRD8, BRF1, BRPF1, BRWD3, BSND, BTD, BTG2, BTK, BTRC, BUD23, C14orf39, C2CD3, C2CD6, CA12, CA2, CACNA1D, CACNA1H, CAMK2B, CAMK2G, CANT1, CARTPT, CASK, CASR, CATIP, CBL, CBLN4, CBS, CBX2, CCDC115, CCDC141, CCDC34, CCDC47, CCDC62, CCDC8, CCDC88A, CCK, CCL2, CCN6, CCND2, CCNQ, CCR5, CD96, CDC42, CDC45, CDC6, CDC73, CDH3, CDK19, CDK5, CDK5RAP2, CDK6, CDKL5, CDKN1A, CDKN1B, CDKN1C, CDKN2B, CDKN2C, CDON, CDT1, CEL, CENPE, CENPF, CENPJ, CEP120, CEP135, CEP152, CEP164, CEP19, CEP290, CEP41, CEP63, CEP85L, CFAP251, CFAP418, CFAP43, CFAP44, CFAP65, CFAP70, CFH, CFHR1, CFHR3, CFTR, CGA, CHD2, CHD4, CHD7, CHD8, CHMP1A, CHRNA1, CHRND, CHRNG, CHST14, CHST3, CHSY1, CIBAR1, CIT, CKAP2L, CLCN2, CLCN5, CLCN7, CLCNKB, CLDN16, CLDN19, CLIC2, CLIP2, CLMP, CLP1, CLPB, CLPP, CNKSR2, CNNM2, CNNM4, CNTN1, CNTNAP1, CNTNAP2, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL17A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL4A1, COL7A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COPB2, COX7B, CPE, CRADD, CREB3L1, CREBBP, CRH, CRHR1, CRIPT, CRTAP, CSF1R, CSGALNACT1, CSNK2A1, CSPP1, CT55, CTC1, CTCF, CTLA4, CTNNA2, CTNNB1, CTRC, CTSA, CTSD, CTSK, CTU2, CUL4B, CUL7, CWC27, CYB5A, CYB5R3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP21A2, CYP24A1, CYP26B1, CYP27B1, CYP2R1, CYP3A4, D2HGDH, DCAF17, DCC, DCHS1, DCPS, DCTN1, DCX, DDOST, DDR2, DDRGK1, DDX3X, DEAF1, DGAT1, DHCR24, DHCR7, DHDDS, DHH, DHX37, DIAPH1, DIAPH2, DICER1, DIO1, DIO2, DIS3L2, DISP1, DKC1, DKK1, DLK1, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DMRT1, DMRT2, DMRT3, DMXL2, DNA2, DNAH1, DNAH10, DNAH17, DNAH2, DNAH6, DNAH8, DNAJC30, DNHD1, DNM1L, DNM2, DNMT3A, DOCK6, DOK7, DOLK, DONSON, DPAGT1, DPF2, DPM1, DPM2, DPP6, DPY19L2, DRC1, DSE, DSPP, DUOX1, DUOX2, DUOXA1, DUOXA2, DUSP6, DYM, DYNC1H1, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DYRK1A, EBP, ECE1, ECEL1, EDN3, EDNRB, EED, EEF1A2, EFEMP2, EFL1, EFNB1, EFTUD2, EGF, EHHADH, EHMT1, EIF2AK3, EIF2B1, EIF2S3, EIF4A3, ELF4, ELN, EMG1, EMX2, ENG, ENO3, ENPP1, EOGT, EOMES, EP300, EPB42, EPG5, EPM2A, EPS15L1, ERAL1, ERBB2, ERBB3, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERGIC1, ESCO2, ESR1, ESR2, ETHE1, ETV2, EVC, EVC2, EXOC6B, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FANCM, FAR1, FARS2, FAT4, FBLN1, FBN1, FBN2, FBP1, FBXO43, FCSK, FERMT3, FEZF1, FGD1, FGF16, FGF17, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FIGLA, FKBP10, FKBP6, FKRP, FKTN, FLII, FLNA, FLNB, FLRT3, FMR1, FN1, FOXA2, FOXE1, FOXG1, FOXH1, FOXI1, FOXL2, FOXP3, FRAS1, FREM1, FREM2, FRMD4A, FSHB, FSHR, FSIP2, FTSJ1, FUCA1, FUT8, FUZ, FXYD2, FZD4, G6PC, G6PC3, GAA, GABBR2, GABRB2, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAS1, GATA1, GATA3, GATA4, GBE1, GC, GCDH, GCGR, GCK, GCKR, GCM2, GDAP1, GDF2, GDF3, GDF5, GDF6, GDF9, GDNF, GEMIN4, GFAP, GFM1, GGN, GH1, GHR, GHRH, GHRHR, GHRL, GHSR, GJA1, GLB1, GLE1, GLI1, GLI2, GLI3, GLP1R, GLUD1, GMNN, GMPPB, GNA11, GNAS, GNPAT, GNPTAB, GNRH1, GNRHR, GNS, GORAB, GPC3, GPC4, GPC6, GPD2, GPR1, GPR101, GPR161, GPT2, GPX4, GRB10, GRHL3, GRIA3, GRIN2A, GRIN2B, GRIP1, GRM3, GTF2I, GTF2IRD1, GTF2IRD2, GTPBP2, GUCY2C, GUSB, GYG1, GYS1, GYS2, GZF1, HADH, HADHA, HADHB, HARS2, HCCS, HCFC1, HCRT, HDAC4, HDAC6, HDAC8, HEPACAM, HERC1, HESX1, HEXA, HFM1, HGSNAT, HHAT, HHEX, HMGA1, HMGA2, HMGB3, HMGCL, HMGCS2, HMOX1, HNF1A, HNF1B, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPC, HNRNPH2, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HS6ST1, HSD11B2, HSD17B1, HSD17B3, HSD17B4, HSD3B1, HSD3B2, HSPA9, HSPG2, HUWE1, HYAL1, IARS2, IBA57, IDH1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNG, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IGBP1, IGF1, IGF1R, IGF2, IGF2BP2, IGFALS, IGFBP1, IGFBP3, IGSF1, IHH, IKBKG, IL11RA, IL17RD, IL2RA, IL2RG, IL6, IL7R, ILF3, INPP5E, INPP5K, INPPL1, INS, INSR, INTU, IQCE, IQCN, IQSEC2, IRF6, IRS1, IRS2, ISL1, ITGA6, ITGB4, ITPR3, IYD, JAG1, KANSL1, KAT6A, KAT6B, KATNB1, KCNA1, KCNA4, KCNJ10, KCNJ11, KCNJ5, KCNJ8, KCNQ1, KCNT1, KCNU1, KCTD1, KDELR2, KDM1A, KDM5C, KDM6A, KIAA0586, KIAA0825, KIAA1109, KIF11, KIF14, KIF1A, KIF22, KIF2A, KIF5C, KIF7, KIFBP, KISS1, KISS1R, KIT, KITLG, KLB, KLF11, KLHL10, KLHL3, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KNL1, KPTN, KRAS, KRT14, KRT5, KSR2, L1CAM, LAGE3, LAMA3, LAMB1, LAMB3, LAMC2, LAMP2, LARGE1, LARGE2, LARP7, LARS2, LAS1L, LAT, LAT2, LBR, LCTL, LDHA, LEMD3, LEP, LEPR, LEPROT, LFNG, LGI4, LHB, LHCGR, LHX1, LHX3, LHX4, LHX9, LIAS, LIG4, LIMK1, LIN28A, LINGO1, LINS1, LIPC, LMBR1, LMBRD1, LMNA, LMNB1, LMOD1, LMX1B, LONP1, LOXL3, LRP4, LRP5, LRP6, LRRK1, LTBP3, LY86, LZTFL1, LZTR1, M1AP, MACF1, MACROH2A1, MAFA, MAFB, MAGEL2, MAGT1, MAMLD1, MAN2B1, MAP2K1, MAP2K2, MAP3K1, MAPK8IP1, MASP1, MATN3, MAU2, MBD5, MBTPS2, MC2R, MC3R, MC4R, MCM4, MCM5, MCM8, MCM9, MCPH1, MECP2, MED12, MED13, MED17, MED30, MEF2C, MEFV, MEGF8, MEI1, MEIOB, MEIS2, MEN1, MEOX1, MESD, METTL27, METTL5, MFF, MFSD2A, MGAT2, MGP, MID1, MINPP1, MITF, MKKS, MKRN3, MKS1, MLC1, MLXIPL, MMACHC, MMADHC, MMP1, MMP13, MMP14, MMP2, MMP9, MOGS, MOV10L1, MPDU1, MPDZ, MPI, MPP5, MPV17, MRAP, MRAS, MRPS22, MSH4, MSH5, MSMO1, MSX2, MTAP, MTHFD1, MTHFR, MTNR1B, MTOR, MTR, MTRR, MUSK, MVK, MYBPC1, MYCN, MYH3, MYH8, MYMK, MYO18B, MYO5A, MYO5B, MYOD1, MYT1, NAA10, NAGLU, NALCN, NANOS1, NANS, NAT8L, NBN, NCAPD2, NCAPD3, NCAPH, NCF1, NDE1, NDN, NDNF, NDP, NDRG1, NEB, NEBL, NEFH, NEK1, NEK9, NEPRO, NEU1, NEUROD1, NEUROD4, NEUROG3, NEXMIF, NF1, NF2, NFIA, NFIX, NGLY1, NHEJ1, NHLRC1, NHP2, NIN, NIPA2, NIPBL, NKX2-1, NKX2-5, NKX3-2, NLRP3, NLRP5, NNT, NOBOX, NODAL, NOG, NONO, NOP10, NOTCH1, NOTCH2, NPAP1, NPHP1, NPM1, NPPC, NPR2, NPR3, NPRL2, NPY, NR0B1, NR0B2, NR3C1, NR3C2, NR5A1, NRAS, NRTN, NRXN1, NSD1, NSDHL, NSMCE2, NSMF, NSUN2, NTNG1, NTRK2, NUP107, NUP133, NUP214, NUP37, NUP85, NUP88, NUS1, OAS1, OASL, OBSL1, OCLN, OCRL, OFD1, OPHN1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTUD4, OTUD6B, OTX2, OXCT1, OXT, P3H1, P4HB, PAFAH1B1, PAH, PAK3, PAM16, PAPPA2, PAPSS2, PARD3, PARD6A, PARN, PAX2, PAX3, PAX4, PAX6, PAX8, PC, PCBD1, PCDH12, PCK1, PCLO, PCNT, PCSK1, PCSK2, PCYT1A, PDE3A, PDE4D, PDGFRB, PDHA1, PDHA2, PDX1, PERCC1, PEX14, PEX19, PEX26, PEX5, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHEX, PHF6, PHF8, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHOX2B, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R1, PIK3R2, PIP5K1C, PISD, PITX1, PITX2, PLAA, PLAG1, PLAGL1, PLCG1, PLEKHG2, PLEKHM1, PLK4, PLOD2, PLS3, PLVAP, PLXND1, PMM2, PNKP, PNLDC1, PNPLA6, POC1A, POF1B, POGZ, POLE, POLG, POLH, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POLR3GL, POLR3H, POMC, POMGNT1, POMT1, POMT2, PON1, POP1, POR, PORCN, POU1F1, PPARG, PPARGC1A, PPIB, PPP1CB, PPP1R15B, PPP1R3A, PPP2R5B, PPP2R5C, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDX1, PRF1, PRKACA, PRKACB, PRKACG, PRKAG2, PRKAR1A, PRKCA, PRL, PRLHR, PRMT7, PROK2, PROKR2, PROP1, PRPH, PRPS1, PRUNE1, PSAT1, PSMC3IP, PSMC5, PTCH1, PTCH2, PTDSS1, PTEN, PTF1A, PTH, PTH1R, PTHLH, PTPN1, PTPN11, PTPN22, PTRH2, PUF60, PUS1, PYCR1, PYCR2, PYGL, PYGM, QARS1, QRICH2, RAB18, RAB23, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAD21, RAF1, RAG1, RAG2, RAI1, RAP1A, RAP1B, RAPSN, RARS2, RASA1, RASA2, RBBP8, RBCK1, RBM10, RBM28, RBM8A, RBMX, RBP4, RBPJ, RECQL4, RELN, REST, RET, RETN, REV3L, RFC2, RFT1, RHOA, RIGI, RIN2, RIPK4, RIT1, RLIM, RNASEH2C, RNASET2, RNF113A, RNF125, RNF135, RNF212, RNF216, RNPC3, ROR2, RPL10, RPL10L, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRAS, RRAS2, RSPO1, RSPRY1, RTEL1, RTTN, RUNX2, RUSC2, RXRA, RXRB, RXRG, RYR1, SALL1, SALL4, SAMD9, SAMHD1, SARS1, SARS2, SASS6, SATB2, SBDS, SBF1, SC5D, SCAPER, SCARF2, SCN1A, SCN3A, SCNN1A, SCNN1B, SCNN1G, SCRIB, SDC3, SDCCAG8, SEC23B, SEC24D, SECISBP2, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA7A, SEPSECS, SERPINA1, SERPINA7, SERPINF1, SERPINH1, SETD2, SETD5, SF1, SF3B2, SFRP4, SGMS2, SGPL1, SGSH, SH2B1, SH3BP2, SH3PXD2B, SHH, SHOC1, SHOC2, SHOX, SHROOM4, SIM1, SIN3A, SIX2, SIX3, SKI, SKIC3, SKIV2L, SLC10A2, SLC12A3, SLC13A1, SLC16A1, SLC16A2, SLC17A5, SLC18A3, SLC19A2, SLC19A3, SLC1A4, SLC25A1, SLC25A19, SLC25A46, SLC26A2, SLC26A3, SLC26A4, SLC29A3, SLC2A1, SLC2A2, SLC30A8, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC39A8, SLC46A1, SLC4A1, SLC5A1, SLC5A5, SLC5A8, SLC9A3, SLC9A3R1, SLC9A6, SLCO1B1, SLCO1B3, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMAD6, SMAD9, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMCHD1, SMO, SMS, SNAI2, SNAP29, SNRPB, SNRPN, SNX10, SOD1, SOHLH1, SOS1, SOS2, SOST, SOX10, SOX11, SOX2, SOX3, SOX4, SOX9, SP7, SPAG17, SPARC, SPATA5, SPECC1L, SPIDR, SPINK1, SPINK5, SPINT2, SPRED1, SPRED2, SPRY4, SPTA1, SPTAN1, SPTB, SRA1, SRCAP, SRD5A2, SRD5A3, SREBF1, SRY, SSR4, SSTR2, ST3GAL5, STAG2, STAG3, STAMBP, STAR, STAT3, STAT5B, STH, STIL, STRADA, STT3A, STT3B, STUB1, STX16, STX1A, STXBP1, SUFU, SULF1, SUMF1, SUMO4, SUZ12, SYCE1, SYCP2, SYCP3, SYN1, SYNE1, SYNGAP1, TAC1, TAC3, TACR3, TAF1, TAF13, TAF2, TAF4B, TAFAZZIN, TAPT1, TAX1BP3, TBC1D20, TBC1D23, TBC1D7, TBCD, TBCE, TBCK, TBL1X, TBL2, TBX1, TBX15, TBX19, TBX3, TBX4, TBX5, TBX6, TBXAS1, TBXT, TCF12, TCF20, TCF4, TCF7L2, TCIRG1, TCOF1, TCTN2, TCTN3, TDGF1, TDRD9, TELO2, TENT5A, TERB1, TERB2, TERC, TERT, TEX11, TEX14, TEX15, TFAP2A, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, THOC2, THOC6, THRA, THRB, THRSP, TINF2, TMCO1, TMEM165, TMEM199, TMEM270, TMEM38B, TMEM67, TMEM94, TMTC3, TNFRSF11A, TNFRSF11B, TNFSF11, TNNI2, TNNT3, TOE1, TONSL, TOP3A, TP53RK, TP63, TPK1, TPM2, TPO, TPRKB, TRAF3IP1, TRAIP, TRAPPC14, TRAPPC2, TRAPPC6B, TRAPPC9, TREX1, TRH, TRHR, TRIM32, TRIM37, TRIO, TRIP11, TRIP13, TRIP4, TRIT1, TRMT10A, TRPM6, TRPS1, TRPV4, TRPV6, TSEN15, TSEN2, TSEN34, TSEN54, TSHB, TSHR, TSPAN12, TSR2, TTC21B, TTC8, TUB, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, TUSC3, TWIST1, TWIST2, TWNK, TXNRD2, UBA1, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UCP1, UCP2, UCP3, UFM1, UGT1A1, UNC80, UPF3B, USB1, USH2A, VAMP7, VANGL1, VANGL2, VARS1, VCP, VDR, VIPAS39, VLDLR, VPS11, VPS13B, VPS33A, VPS33B, VPS37D, VPS4A, VPS53, VRK1, WDFY3, WDPCP, WDR11, WDR19, WDR35, WDR4, WDR45B, WDR62, WDR73, WFS1, WNT1, WNT10B, WNT3A, WNT4, WNT5A, WNT7A, WRAP53, WT1, WWOX, XRCC2, XRCC4, XYLT1, XYLT2, YWHAE, ZBTB16, ZBTB18, ZBTB20, ZBTB7A, ZC4H2, ZDHHC9, ZEB2, ZFAT, ZFP57, ZFPM2, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND15, ZNF141, ZNF335, ZPBP, ZSWIM6, ZSWIM7, ZYG11B
Kontaktní osoba: Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Spiros Tavandzis
Poznámka: virtuální panel Gama VZÁCNÁ ONEMOCNĚNÍ_ALL_v1
Virtuální panel Vzácná onemocnění - základní panel (492) (Klinický exom (CES))
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, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, 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, 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, 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, SALL1, SALL4, SAMD9, SBDS, SC5D, SCARF2, SEM1, SEMA3A, SEMA3C, SEMA3D, SERPINA1, SETD2, SETD5, SF3B2, 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, 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, UBA1, UBE3A, UGT1A1, UNC80, USB1, USH2A, VIPAS39, VPS13B, VPS33B, WDR11, WDR19, WDR35, WNT10B, WNT7A, WRAP53, YWHAE, ZC4H2, ZEB2, ZIC1, ZIC3, ZNF141, ZYG11B
Kontaktní osoba: Mgr. Markéta Kateřiňáková (Korená), Mgr. Pavla Christelová, Ph.D., Mgr. Spiros Tavandzis
Poznámka: virtuální panel Gama VZÁCNÁ ONEMOCNĚNÍ_v1
Virtuální panel Wilsonova choroba (1)
ATP7B
Kontaktní osoba: Mgr. Hrazděrová, Mgr. Brožová (Skočková)
Poznámka: virtuální panel Gama WILSON_v1

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