DNA-Reparatur-Defizienz-Syndrome, umfassende Diagnostik : 221 Gene (507,344 kb)

ABRAXAS1, ALKBH2, ALKBH3, ANAPC1, APEX1, APEX2, APLF, APTX, ATM, ATR, ATRIP, ATRX, BARD1, BLM, BRCA1, BRCA2, BRIP1, CCNH, CDK7, CETN2, CHAF1A, CHEK1, CHEK2, CLK2, DCLRE1A, DCLRE1B, DCLRE1C, DDB1, DDB2, DMC1, DNA2, DNPH1, DNTT, DUT, EME1, EME2, ENDOV, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, EXO1, EXO5, FAAP20, FAAP24, FAAP100, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FEN1, GEN1, GTF2E2, GTF2H1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, H2AX, HELQ, HERC2, HFM1, HLTF, HMCES, HUS1, LIG1, LIG3, LIG4, MAD2L2, MBD4, MDC1, MGMT, MLH1, MLH3, MMS19, MNAT1, MPG, MPLKIP, MRE11, MSH2, MSH3, MSH4, MSH5, MSH6, MUS81, MUTYH, NABP2, NBN, NEIL1, NEIL2, NEIL3, NHEJ1, NTHL1, NUDT1, NUDT15, NUDT18, OGG1, PALB2, PARG, PARK7, PARP1, PARP2, PARP3, PARPBP, PAXIP1, PCNA, PDS5B, PER1, PMS1, PMS2, PNKP, POLA1, POLB, POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3, POLE4, POLG, POLH, POLI, POLK, POLL, POLM, POLN, POLQ, PRIMPOL, PRKDC, PRPF19, RAD1, RAD9A, RAD17, RAD18, RAD23A, RAD23B, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54B, RAD54L, RBBP8, RDM1, RECQL, RECQL4, RECQL5, REV1, REV3L, RFWD3, RIF1, RMI1, RNF4, RNF8, RNF168, RPA1, RPA2, RPA3, RPA4, RRM2B, SEM1, SETMAR, SHLD1, SHLD2, SHLD3, SHPRH, SLX1A, SLX1B, SLX4, SMC5, SMC6, SMUG1, SPIDR, SPO11, SPRTN, SWI5, SWSAP1, TDG, TDP1, TDP2, TOP3A, TOPBP1, TP53, TP53BP1, TREX1, TREX2, UBE2A, UBE2B, UBE2N, UBE2T, UBE2V2, UNG, USP1, UVSSA, WDR48, WRN, XAB2, XPA, XPC, XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XRCC6, ZSWIM7