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NGS analysis - Microcephaly and pontocerebellar hypoplasia
Gene: AKT3, AMPD2, ANKLE2, AP4M1, ARFGEF2, ASPM, ASXL1, ASXL3, ATR, ATRIP, ATRX, BRAT1, BUB1B, CASK, CDK5RAP2, CDK6, CDKL5, CENPE, CENPJ, CEP135, CEP152, CEP63, CKAP2L, COX7B, CREBBP, CRIPT, CTNNB1, DDX3X, DHCR7, DIAPH1, DNM1L, DYNC1H1, DYRK1A, EFTUD2, EP300, EXOSC3, FOXG1, GFM1, GPT2, HMGB3, IER3IP1, KANSL1, KAT6A, KATNB1, KIF11, KIF1A, KMT2D, KNL1, LIG4, MBD5, MCPH1, MECP2, MED17, MFSD2A, MIPEP, MIR17HG, MRE11, MSMO1, MYCN, MYO18B, NBN, NCAPD3, NDE1, NHEJ1, NIN, NIPBL, NR2E1, OPHN1, PAFAH1B1, PCDH12, PCLO, PCNT, PHC1, PHGDH, PLEKHG2, PLK4, PNKP, POMT1, PPP1R15B, PQBP1, QARS1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RNASEH2C, RTTN, SASS6, SEPSECS, SLC25A19, SLC2A1, SLC9A6, SMARCA2, SMARCE1, SNAP29, SOX11, SPATA5, STAG2, STAMBP, STIL, TBC1D20, TBC1D23, TCF4, THOC6, TMTC3, TOE1, TOP3A, TRAPPC9, TRMT10A, TSEN2, TSEN34, TSEN54, TUBA1A, TUBB, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, UBE3A, UBE3B, VPS13B, VRK1, WDR62, WDR73, XRCC4, ZEB2, ZNF335
NGS analysis - Monogenic inflammatory bowel disease
Gene: ADA, ADAM17, AICDA, ATG16L1, BTK, CD3G, CD40LG, COL7A1, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, EPCAM, FERMT1, FOXP3, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IL10, IL10RA, IL10RB, IL12B, IL21, IL2RA, IL23R, IL2RG, IRGM, ITGB2, JAK2, LIG4, LRBA, MEFV, MVK, NCF1, NCF2, NCF4, NFAT5, NLRC4, NOD2, PIK3CD, PIK3R1, PLCG2, PTEN, RAG1, RAG2, RTEL1, SH2D1A, SKIV2L, SLC22A4, SLC22A5, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TGFBR2, TTC7A, TTC37, TYK2, WAS, ZAP70
NGS analysis - Mental retardation
Gene: ACSL4, ADNP, ADSL, AFF2, ANKRD11, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ATP6AP2, ATP7A, ATRX, BRWD3, CA8, CASK, CC2D1A, CCDC22, CDH15, CDKL5, CLCN4, CNKSR2, CNTNAP2, CRBN, CREBBP, CTNNB1, CUL4B, DCX, DDX3X, DKC1, DLG3, DYNC1H1, DYRK1A, EHMT1, EIF2S3, EP300, ERLIN2, FGD1, FLNA, FOXG1, FOXP1, FTSJ1, GATAD2B, GDI1, GRIA3, GRID2, GRIN1, GRIN2B, HDAC8, HPRT1, HRAS, HSD17B10, HUWE1, IL1RAPL1, IQSEC2, KANSL1, KAT6B, KCNJ10, KDM5C, KDM6A, KIF1A, KMT2A, KMT2D, L1CAM, MAGT1, MAN1B1, MANBA, MAOA, MBD5, MECP2, MED12, MED13L, MED23, MEF2C, MID1, NAA10, NDUFA1, NEXMIF, NIPBL, NLGN4X, NRXN1, NSD1, NSDHL, NSUN2, OCRL, OFD1, OPHN1, PACS1, PAFAH1B1, PAK3, PDHA1, PHF6, PHF8, PLP1, POGZ, PQBP1, PRPS1, PRSS12, PTCHD1, RAB39B, RAI1, RLIM, RPL10, RPS6KA3, SATB2, SCN8A, SETBP1, SETD5, SHROOM4, SKI, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMC1A, SMC3, SOBP, SOX3, ST3GAL3, SYN1, SYNGAP1, SYP, TAF1, TBL1XR1, TBR1, TCF4, THOC2, TIMM8A, TRAPPC9, TRIO, TSPAN7, TUBA1A, TUSC3, UBE2A, UBE3A, UBE3B, UPF3B, USP9X, VLDLR, VPS13B, WDR45, ZC3H14, ZC4H2, ZDHHC9, ZEB2, ZNF711
NGS analysis - Marfan, Ehlers-Danlos, Loeys-Dietz syndrome, aortopathy and differential diagnosis
Gene: ABCC6, ABL1, ACTA2, ADAMTS2, ADAMTS10, ADAMTS17, ADAMTSL4, ALDH18A1, ATP6V0A2, ATP7A, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, DSE, EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, GORAB, HCN4, CHST14, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, P3H1, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
NGS analysis - Leber congenital amaurosis
Gene: AIPL1, ALMS1, BBS4, CABP4, CEP290, CRB1, CNGA3, CNNM4, CRX, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH5, RDH12, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
NGS analysis - Leukodystrophies and leukoencephalopathies
Gene: AARS2, ABAT, ABCD1, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, APP, ARSA, ASPA, AUH, B3GALNT2, BOLA3, CLCN2, CNTNAP1, COA8, COL4A1, COX10, COX6B1, CSF1R, CTC1, CYP27A1, DARS, DARS2, DMXL2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC8, FA2H, FAM126A, FDX2, FOLR1, FUCA1, GALC, GBE1, GCDH, GFAP, GFM1, GFPT1, GJA1, GJC2, GLA, GLB1, GLRX5, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA2, KIF5A, L2HGDH, LMNB1, LRPPRC, LYRM7, MARS2, MCCC1, MGP, MLC1, MPV17, MRPS22, MTR, NADK2, NDUFS1, NDUFS4, NDUFV1, NOTCH3, NUBPL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PSEN1, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, SAMHD1, SCP2, SDHA, SDHAF1, SDHB, SLC16A2, SLC17A5, SOX10, SPG11, SUMF1, SURF1, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, ZFYVE26
NGS analysis - Lissencephaly
Gene: ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, CEP85L, CRADD, DCX, DYNC1H1, FKRP, FKTN, ISPD, KATNB1, KIAA1109, KIF2A, KIF5C, LAMB1, LARGE1, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RTTN, TMEM5 (RXYLT1), TMTC3, TUBA1A, TUBA8, TUBB (TUBB5), TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE
NGS analysis - Macrocephaly
Gene: AKT1, AKT2, AKT3, ASPA, BRWD3, CCND2, CDKN1C, CUL4B, DHCR24, DIS3L2, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, CHD4, CHD8, KDM1A, KIAA1109, KIF7, KPTN, KRAS, L1CAM, MED12, MITF, MLC1, MPDZ, MTOR, NF1, NFIA, NFIB, NFIX, NPR2, NRAS, NSD1, OFD1, PHF6, PIGA, PIK3CA, PIK3R2, PPP2R5D, PTEN, PTCH1, RAB39B, RIN2, RNF125, RNF135, SEC23B, SETD2, SNX14, SPRED1, STRADA, SUFU, SUZ12, SYN1, TBC1D7, WASHC5/KIAA0196, ZBTB20
NGS analysis - Comprehensive panel of deafness
Gene: ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ANKH, ATP2B2, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD151, CDH23, CEACAM16, CEP250, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYM, DCAF17, DCDC2, DFNA5, DFNB59 , DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FAM65B , FGF3, FOXI1, GATA3, GFER, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS, HARS2, HGF, HOMER2, HOXA2, HOXB1, HSD17B4, CHD7, CHSY1, IGF1, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MGP, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLD1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RDX, RMND1, RPS6KA3, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMIE, TMPRSS3, TNC, TNFRSF11B, TPRN, TRIOBP, TSHZ1, TSPEAR, TWNK, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2, YAP1
NGS analysis - Congenital myasthenias
Gene: AGRN, ALG2, ALG14, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC25A1, SLC5A7, SNAP25, STIM1, SYT2, VAMP1
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