Prehľadávať katalóg:
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Hypomyelinizačná leukodystrofia, typ14
Gen: UFM1 -
Heterotaxia a situs inversus
Gen: ACVR2B, ANKS6, ARL2BP, CCDC103, CCDC114, CCDC39, CCDC40, CFAP298, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, FOXJ1, GDF1, INVS, LRRC6, NODAL, ODAD2, ODAD3, PKD1L1, SMAD2, SPAG1, ZIC3, ZMYND10 -
Hereditárne neutropénie
Gen: ACTB, AP3B1, CLPB, CSF2RA, CSF3R, CTSC, CXCR4, ELANE, G6PC3, GATA1, GATA2, GFI1, HAX1, IFNGR2, JAGN1, LAMTOR2, LYST, MKL1, PGM3, RAB27A, RAC2, SBDS, SLC37A4, SRP72, TAZ, USB1, VPS13B, VPS45, WAS, WIPF1 -
Hereditárna hemoragická telangiektázia
Gen: SMAD4_MLPA -
HPV HCR genotypizácia
Gen: HPV HCR genotypizácia -
Hereditárne karcinómy kolorekta_Lynchov syndróm_Polypóza
Gen: ACD, AIP, AKT1, AMG, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA1_5UTR, BRCA2, BRCA2_5UTR, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM175A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, RKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, SRY, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2 -
Hereditárne endokrinné tumory
Gen: ACD, AIP, AKT1, AMG, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA1_5UTR, BRCA2, BRCA2_5UTR, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM175A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, RKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, SRY, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2 -
HBOC syndróm
Gen: ACD, AIP, AKT1, AMG, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA1_5UTR, BRCA2, BRCA2_5UTR, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM175A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, RKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, SRY, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2 -
Hirschsprungova choroba
Gen: ECE1, EDN3, EDNRB, ERBB2, ERBB3, GDNF, L1CAM, NRTN, PHOX2B, RET, RMRP, SOX10, ZEB2 -
Hereditárny paraganglióm – feochromocytóm
Gen: SDHD