Katalóg vyšetrení

Lekárska genetika
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  • Všetky

Vyberte skupinu vyšetrení

  • Mnohopočetné vrodené exostózy, typ 2
    Gen: EXT2_NGS
    Informácie o vyšetrení
  • Mnohopočetné vrodené exostózy, typ 1
    Gen: EXT1_NGS
    Informácie o vyšetrení
  • Monogénový diabetes
    Gen: ABCC8, AGPAT2, AKT2, ALMS1, APPL1, BSCL2, CEL, CISD2, COQ2, DCAF17, DNAJC3, DUT, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, FOXP3, GATA4, GATA6, GCK, GLIS3, HAMP, HFE, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, KCNJ11, LMNA, LRBA, MNX1, MT-TL1, NEUROD1, NEUROG3, NKX2-2, PAX6, PCBD1, PDX1, PIK3R1, PLIN1, POLD1, PPARG, PPP1R15B, PTF1A, RFX6, SLC19A2, SLC29A3, SLC2A2, SLC40A1, SMPD4, STAT3, TFR2, TRMT10A, WFS1, YIPF5, ZBTB20, ZFP57, ZMPSTE24
    Informácie o vyšetrení
  • Mitochondriálne ochorenia
    Gen: AARS2, ABAT, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, APOPT1, APTX, ATAD3A, ATP5A1, ATP5D, ATP5E, ATP5G3, ATP5O, ATPAF2, BCS1L, BOLA3, C12orf65, C19orf70, C1QBP, C2orf69, CA5A, CARS2, CHCHD10, CLPB, CLPP, COA6, COA7, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX15, COX20, COX5A, COX6A1, COX6A2, COX6B1, COX7B, CRLS1, CYC1, CYCS, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, DNM2, EARS2, ECHS1, ELAC2, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GARS, GDAP1, GFER, GFM1, GFM2, GLRX5, GTPBP3, HADHB, HARS2, HCCS, HIBCH, HLCS, HPDL, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, IDH3A, ISCA1, ISCA2, ISCU, KARS, KIAA0391, LARS2, LETM1, LIAS, LIG3, LIPT1, LIPT2, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICU1, MIPEP, MPC1, MPV17, MRM2, MRPL3, MRPL39, MRPL44, MRPS2, MRPS22, MRPS34, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MT-RNR1, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NADK2, NARS2, NAXD, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NSUN3, NUBPL, OPA1, OPA3, OXCT1, PANK2, PARS2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PITRM1, PLA2G6, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, POLRMT, PPA2, PPOX, PTCD3, PUS1, QARS, QRSL1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SERAC1, SFXN4, SLC13A3, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A19, SLC25A20, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A36, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC52A2, SLC52A3, SPATA5, SPG7, SSBP1, SUCLA2, SUCLG1, SURF1, TACO1, TAMM41, TARS2, TAZ, TEFM, TFAM, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126B, TMEM70, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCRB, UQCRC2, UQCRFS1, VARS2, WARS2, YARS2
    Informácie o vyšetrení
  • Malformácie mozgu vrátane Dandy-Walkerovej malformácie
    Gen: AFF3, ACTG1, ADGRG1, AIMP1, AKT3, ALG3, AMPD2, AP1S2, APC2, ARFGEF2, ARID1A, ARID1B, ARID2, ARMC9, ARX, ASNS, ASPM, ASXL1, ATAD3A, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP6V1E1, B3GALNT2, B3GNT2, B4GALT1, B4GAT1, B9D1, B9D2, BCOR, BICD2, BLTP1, BRF1, BUB1, BUB1B, BUB3, C2CD3, CASK, CC2D2A, CCDC22, CCND2, CDC42, CDK13, CDK5, CDKN1C, CEP120, CEP290, CEP57, CEP85L, CIT, CLP1, COASY, COG8, COL18A1, COL3A1, COL4A1, CPT2, CRADD, CRPPA, CSF1R, CSPP1, CUL4B, DAG1, DCX, DDX3X, DENND5A, DHCR7, DCHS1, DMRTA2, DOK7, DPF2, DPH1, DPH2, DPYSL5, DYNC1H1, DYNC2H1, DYNC2I1, DYNC2I2, EBP, EML1, ESCO2, EVC, EVC2, EXOSC3, EXOSC8, EXOSC9, FAR1, FGFR1, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GJB2, GJB6, GLI3, GMPPB, GPC3, GPC4, GPSM2, GRIN2B, GTPBP2, HRAS, HYLS1, CHD7, CHMP1A, IFT80, IGF2, KAT5, KATNB1, KCNQ1, KCNQ1OT1, KIAA0586, KIF21A, KIF2A, KIF5A, KIF5C, KIF7, KIFBP, KRAS, LAMA2, LAMB1, LAMC3, LARGE1, LMNB1, MAB21L1, MACF1, MAGEL2, MID1, MKS1, MN1, MTM1, MTOR, MUSK, MYOD1, NDE1, NEDD4L, NPHP3, NRAS, NUP88, OCLN, OFD1, OPHN1, OSGEP, PAFAH1B1, PCLO, PEX1, PEX10, PEX13, PEX16, PEX19, PEX2, PEX26, PEX3, PEX7, PGAP2, PHGDH, PI4KA, PIEZO2, PIGN, PIK3R2, PLG, PLCH1, PMM2, POGZ, POLR1A, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP1CB, PPP1R12A, PQBP1, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAPSN, RARS2, RELN, RNF113A, RPGRIP1, RPGRIP1L, RTTN, RXYLT1, SEMA3E, SEPSECS, SHMT2, SLC18A3, SLC25A46, SLC35A2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMG9, SMPD4, SNAP29, SON, SOX11, SOX4, SRD5A3, SRPX2, TAF1C, TBC1D20, TBC1D23, TBC1D24, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMTC3, TMX2, TOE1, TRIP13, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TXNDC15, USP9X, VLDLR, VPS35L, VPS51, VPS53, VRK1, WASHC5, WDR35, WDR62, WDR73, WDR81, ZIC1
    Informácie o vyšetrení
  • Marfanov syndróm
    Gen: FBN1_NGS
    Informácie o vyšetrení
  • Mukopolysacharidóza typ III
    Gen: HGSNAT
    Informácie o vyšetrení
  • Mitochondriálna encefalokardiomyopatia
    Gen: TMEM70 (c.317-2A>G)
    Informácie o vyšetrení
  • Malý panel vybraných génov
    Gen: Výber génov (rozsah 2-15) podľa dohody a aktuálnej ponuky.
    Informácie o vyšetrení
  • Mitochondriálne ochorenia - mtDNA MLPA
    Gen: mtDNA_MLPA
    Informácie o vyšetrení
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