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NGS analysis - Usher syndrome
Gene: ABHD12, ADGRV1 (GPR98), CDH23, CEP250, CIB2, CLRN1, ESPN, GIPC3, HARS, MYO7A, PCDH15, PDZD7, PRPS1, USH1C, USH1G, USH2A, WHRN (DFNB31)
NGS analysis - Vitreoretinopathy
Gene: ATOH7, BEST1, CAPN5, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2 (LEPREL1), RCBTB1, RS1, TSPAN12, VCAN, ZNF408
NGS analysis - Acute heart failure syndromes
Gene: ACADVL, ACTC1, ACTN2, AKAP9, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CSRP3, CTNNA3, DSC2, DSG2, DSP, DTNA, FBN1, FKTN, FLNC, GJA5, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NPPA, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, VCL
NGS analysis - Syndromic deafness, AR, XL
Gene: ABHD12, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCAP31, BCS1L, BSND, BTD, CACNA1D, CATSPER2, CD151, CDH23, CEP250, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, DCAF17, DLX5, EDN3, EDNRB, ESPN, FGF3, FOXI1, GFER, GPSM2, GRHL2, HARS, HARS2, HOXA2, HOXB1, HSD17B4, CHSY1, IGF1, KCNE1, KCNJ10, KCNQ1, LARS2, LRP2, MAN2B1, MANBA, MGP, MITF, MYO7A, NARS2, NDP, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLR1C, POLR1D, PRPS1, RMND1, RPS6KA3, SLC19A2, SLC26A4, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SNAI2, TBC1D24, TIMM8A, TNFRSF11B, TWNK, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2
NGS analysis - Long QT syndrome
Gene: AKAP9, ANK2, CACNA1C, CALM1, CALM1, CALM1, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
NGS analysis - Spondylocostal dysostosis
Gene: DLL3, HES7, LFNG, MESP2, TBX6
NGS analysis - Syndromic deafness
Gene: ABHD12, ACTG1, ADGRV1, AIFM1, ALMS1, ANKH, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BSND, BTD, CACNA1D, CATSPER2, CD151, CDH23, CEP250, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, DCAF17, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN, EYA1, FGF3, FOXI1, GATA3, GFER, GPSM2, GRHL2, HARS, HARS2, HOXA2, HOXB1, HSD17B4, CHD7, CHSY1, IGF1, KCNE1, KCNJ10, KCNQ1, LARS2, LRP2, MAN2B1, MANBA, MGP, MITF, MYH14, MYH9, MYO6, MYO7A, NARS2, NDP, NLRP3, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLD1, POLR1C, POLR1D, PRPS1, RMND1, RPS6KA3, SALL1, SALL4, SEMA3E, SIX1, SIX5, SLC19A2, SLC26A4, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SNAI2, SOX10, TBC1D24, TCOF1, TFAP2A, TIMM8A, TNFRSF11B, TSHZ1, TWNK, TYR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2, YAP1
NGS analysis - Syndromic deafness, AD, XL
Gene: ACTG1, AIFM1, ANKH, ATP6V1B2, BCAP31, COL11A1, COL11A2, COL2A1, COL4A3, COL4A5, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, EYA1, GATA3, GRHL2, HOXA2, CHD7, MITF, MYH14, MYH9, MYO6, NDP, NLRP3, PAX3, PEX6, POLD1, POLR1D, PRPS1, RPS6KA3, SALL1, SALL4, SEMA3E, SIX1, SIX5, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TSHZ1, TWNK, TYR, WFS1, YAP1
NGS analysis - Rett and Rett-like syndrome
Gene: CDKL5, FOXG1, GABBR2, HTT, IQSEC2, MECP2, MEF2C, NGLY1, NTNG1, SLC9A6
NGS analysis - Seckel syndrome
Gene: ATR, CDK5RAP2, CENPJ, CEP152, CEP63, DNA2, LIG4, NIN, PCNT, RBBP8, TRAIP
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