SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
GENES ANALISADOS
ABHD12, ACTB, ACTG1, ADGRV1, AIFM1, ALMS1, ANKH, ATP6V0A4, ATP6V1B1, BCS1L, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151, CDH23, CDKN1C, CEACAM16, CHD7, CHSY1, CIB2, CLDN14, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, DCAF17, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, ECE1, EDN3, EDNRA, EDNRB, ERCC2, ERCC3, ESPN, ESRRB, EYA1, EYA4, FAS, FGF3, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, GPSM2, GRHL2, GRXCR1, GSDME, HARS1, HARS2, HGF, HOXB1, HSD17B4, ILDR1, JAG1, KARS1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LHFPL5, LHX3, LOXHD1, LRP2, MAN2B1, MANBA, MARVELD2, MET, MGP, MITF, MSRB3, MTAP, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, MYOC, NDP, NF2, NLRP3, OTOA, OTOF, OTOG, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PEX7, PHYH, PJVK, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RDX, RMND1, RPS6KA3, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC4A11, SLC52A2, SLC52A3, SMAD4, SMPX, SNAI2, SOX10, SOX2, SPINK5, SUCLA2, SUCLG1, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, , TOMT, TRIOBP, TRMU, TSPEAR, TWNK, TYR, USH1C, USH1G, USH2A, VCAN, WFS1, WHRN