Displasias ectodérmicas
Catálogo: Catálogo genética médica con informe
Referencia: LV4953
GEN_000263
G00088
Especialidad: Dermatología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 56 genes: ANAPC1, APCDD1, AXIN2, C3orf52, CDH3, CDSN, CST6, DLX3, DSG4, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6, GRHL2, HOXC13, HR, IFT122, INSR, ITGA3, JUP, KCTD1, KREMEN1, KRT14, KRT25, KRT71, KRT74, KRT85, LIPH, LPAR6, LRP6, LSS, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, PKP1, PORCN, PRKD1, RECQL4, RIPK4, RMRP, RSPO4, SNRPE, SREBF1, ST14, TP63, TSPEAR, TUFT1, WDR35, WNT10A
Enfermedades dermatológicas (incluye displasias ectodérmicas, epidermolisis bullosa, ictiosis, síndrome de Griscelli, cutis laxa, disqueratosis congénita y otras alteraciones de la piel, uñas, cabello y dientes)
Catálogo: Catálogo genética médica con informe
Referencia: LV4952
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Especialidad: Dermatología
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
