Secuenciación Sanger del gen CTLA4

Secuenciación masiva y cribado bioinformático de CNVs, panel de 53 genes: ABCB1, AIRE, AP3B1, AP3D1, ATG16L1, BACH2, CARD8, CARMIL2, CASP10, CASP8, CD27, CD70, CTLA4, CTPS1, DEF6, DSG1, FAAP24, FADD, FAS, FASLG, FERMT1, IL10, IL10RA, IL10RB, IL2RA, IL2RB, IL37, INAVA, IRF5, ITCH, JAK1, LRBA, LYST, MAGT1, NFAT5, PEPD, PRF1, PRKCD, RAB27A, RASGRP1, RIPK1, SH2D1A, SLC7A7, SOCS1, STAT3, STX11, STXBP2, TET2, TGFB1, TNFRSF9, TPP2, UNC13D, XIAP

Secuenciación masiva y cribado bioinformático de CNVs, panel de 326 genes:AAGAB, ABCA12, ABCA5, ABCC6, ABHD5, ADAMTS2, ADAMTSL2, AEBP1, AGPAT2, AK2, ALDH18A1, ALDH3A2, ALOX12B, ALOXE3, ANTXR1, AP1B1, AP1S1, AP3B1, AP3D1, APCDD1, AQP5, ARHGAP31, ARID1B, ARID2, AARS1, ATP2C1, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP6V1E1, ATP7A, AXIN2, B3GALT6, B4GALT7, BANF1, BAP1, BCS1L, BGN, BLM, BLOC1S3, BLOC1S5, BLOC1S6, BMP4, BRAF, BSCL2, C1R, C1S, CASP14, CAST, CD151, CDH1, CDH3, CDK4, CDKN2A, CDSN, CERS3, CHST14, CHST3, CHUK, CLCN7, CLDN1, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL7A1, CSTA, CST6, CTNND1, CTSC, CTSK, CYP4F22, DDB2, DKC1, DLL4, DLX3, DOCK6, DSE, DSG1, DSG4, DSP, DST, DTNBP1, EBP, EDA, EDAR, EDARADD, EDN3, EDNRB, EFEMP2, EGFR, ELN, ELOVL1, ELOVL4, ENPP1, EOGT, EPG5, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EVC, EVC2, EXPH5, FBLN5, FBN1, FBN2, FERMT1, FGF10, FGFR2, FGFR3, FKBP14, FLCN, FLG, FLNA, FREM1, GJA1, GJB2, GJB3, GJB4, GJB6, GORAB, GPR143, GREM2, GRHL2, GRHL3, GTF2E2, GTF2H5, HEPHL1, HOXC13, HPS1, HPS3, HPS4, HPS5, HPS6, HR, IFT122, INSR, IPO8, IRF6, ITGA3, ITGA6, ITGB4, JUP, KANK2, KCTD1, KDSR, KIT, KITLG, KLHL24, KRAS, KREMEN1, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT25, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT83, KRT85, KRT9, LAMA3, LAMB3, LAMC2, LIPH, LIPN, LMNA, LORICRIN, LPAR6, LRMDA, LRP6, LSS, LTBP1, LTBP3, LTBP4, LYST, MAP2K1, MAP2K2, MARS1, MBTPS2, MC1R, MITF, MLPH, MPLKIP, MSX1, MYO5A, NDUFB11, NECTIN1, NECTIN4, NF2, NFKBIA, NHP2, NIPAL4, NOP10, NOTCH1, OCA2, OSMR, PARN, PAX3, PAX9, PDGFRB, PEX1, PEX7, PHYH, PIGL, PKP1, PLCD1, PLEC, PLOD1, PNPLA1, POC1A, POLH, POLR3A, POMP, PORCN, POT1, PRDM5, PRKD1, PTCH1, PTEN, PTH1R, PYCR1, RAB27A, RBPJ, RECQL4, RELA, RHBDF2, RIN2, RIPK4, RMRP, RNF113A, ROGDI, RSPO1, RTEL1, SDR9C7, SERPINB7, SERPINB8, SETBP1, SHOC2, SLC24A5, SLC25A24, SLC27A4, SLC30A2, SLC39A13, SLC39A4, SLC45A2, SLURP1, SMAD3, SMARCA4, SMARCAD1, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMOC2, SNAI2, SNAP29, SNRPE, SOS1, SOX10, SOX11, SOX18, SOX4, SPINK5, SPRED1, SREBF1, ST14, STS, SUFU, SULT2B1, SUMF1, TARS1, TAT, TBC1D24, TBX3, TERC, TERT, TGFB2, TGFBR1, TGFBR2, TGM1, TGM5, TINF2, TNXB, TP63, TRPS1, TRPV3, TSC1, TSC2, TSPEAR, TWIST2, TYMS, TYR, TYRP1, UBR1, USB1, VPS33B, WDR19, WDR35, WNT10A, WNT10B, WRAP53, WRN, XPA, XPC, XRCC3, ZMPSTE24, ZNF469, ZNF750, ANAPC1, C3orf52, RSPO4, TUFT1

Secuenciación masiva y cribado bioinformático de CNVs, panel de 51 genes: AGA, ARSA, ARSB, ASAH1, ATP13A2, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSK, FUCA1, GAA, GALC, GALNS, GBA1, GLA, GLB1, GM2A, GNE, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1, VPS33A

Secuenciación masiva y cribado bioinformático de CNVs, panel de 236 genes: AARS2, ABAT, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ANO10, APTX, ATAD3A, ATP5F1A, ATP5F1D, ATP5MC3, ATPAF2, BCS1L, BOLA3, BTD, C12orf65, C1QBP, CA5A, CARS2, CHCHD10, CLPB, CLPP, COA6, COA7, COA8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX6A1, COX6A2, COX6B1, COX7B, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, DNM2, EARS2, ECHS1, ELAC2, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GARS1, GDAP1, GFER, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HCCS, HIBCH, HLCS, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, ISCA1, ISCA2, ISCU, KARS1, LARS2, LIAS, LIG3, LIPT1, LIPT2, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MPC1, MPV17, MRPL3, MRPL44, MRPS2, MRPS22, MRPS34, MSTO1, MTFMT, MTO1, MTPAP, NADK2, NARS2, 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, PARS2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, POLRMT, PPA2, PUS1, QRSL1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC25A1, SLC25A12, SLC25A19, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SPG7, SQOR, SSBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAFAZZIN, 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

Secuenciación masiva y cribado bioinformático de CNVs, panel de 28 genes: AGL, ALDOA, ENO3, EPM2A, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, LPIN1, NHLRC1, PCK1, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4

Secuenciación masiva y cribado bioinformático de CNVs, panel de 22 genes: CD151, COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5

Secuenciación Sanger del gen KRT5

Secuenciación Sanger del gen KRT14

Secuenciación Sanger del gen PCDH19

Detección de deleciones/duplicaciones en el gen PCDH19 mediante MLPA

Secuenciación Sanger del gen PCDH19

Detección de deleciones/duplicaciones en el gen PCDH19 mediante MLPA

Secuenciación Sanger del gen LGI1

Secuenciación Sanger del gen GABRG2

Secuenciación Sanger del gen TBC1D24

Secuenciación Sanger del gen CSTB

Detección de la expansión del dodecámero en la región promotora del gen CSTB

Secuenciación Sanger del gen EPM2A

Secuenciación Sanger del gen NHLRC1