Multigen-Diagnostik

Panel-Nummer: ID350.02

Gene (755)

Methodik

Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).

Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.

Zusätzlich erfolgt eine Sanger-Sequenzanalyse der Gene GBA1 und CYP21A2, eine MLPA-Analyse der Gene GBA1, SMN1 und CYP21A2 sowie eine FMR1-Repeatanalyse.

Diagnostik

Gen-Panel: ID350.02, 755 Gene (1852,9 kb)

AAAS, ABCA12, ABCA3, ABCA4, ABCB4, ABCB11, ABCC6, ABCC8, ABCD1, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACOX1, ACSF3, ADA, ADAMTS13, ADAMTS2, ADGRG1, ADGRV1, ADSL, AGA, AGL, AGPS, AGT, AGTR1, AGXT, AHI1, AIRE, AKR1D1, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, AMACR, AMH, AMHR2, AMPD1, AMT, ANK1, ANO10, ANTXR2, AP1S2, AP3B1, APTX, AQP2, ARG1, ARSA, ARSB, ARSL, ARX, ASL, ASNS, ASPA, ASS1, ATIC, ATM, ATP6V0A2, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, AVPR2, B4GALT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS9, BCHE, BCKDHA, BCKDHB, BCOR, BCS1L, BLM, BLOC1S6, BRIP1, BRWD3, BSND, BTD, BTK, CA2, CANT1, CAPN3, CASK, CASQ2, CASR, CBS, CC2D1A, CC2D2A, CCDC88C, CD19, CD3D, CD3E, CD3G, CD40LG, CDH23, CDKL5, CEP290, CEP41, CERKL, CFP, CFTR, CHM, CHRNA1, CHRND, CHRNE, CHRNG, CIITA, CLCN1, CLCN5, CLCN7, CLDN1, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COG7, COG8, COL11A2, COL17A1, COL1A2, COL27A1, COL4A3, COL4A4, COL4A5, COL6A3, COL7A1, COQ2, COQ8A, COQ9, COX10, COX15, CPS1, CPT1A, CPT2, CRB1, CRLF1, CRTAP, CSTB, CTNS, CTSC, CTSD, CTSK, CUL4B, CYBA, CYBB, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, D2HGDH, DBT, DCLRE1C, DCX, DDB2, DDC, DGUOK, DHCR24, DHCR7, DHDDS, DKC1, DLD, DLG3, DLL3, DMD, DMP1, DNAH5, DNAI1, DNAI2, DNMT3B, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPYD, DSP, DUOX2, DUOXA2, DYNC2H1, DYSF, EDA, EDAR, EDN3, EDNRB, EFEMP2, EGR2, EIF2AK3, EIF2B5, ELP1, EMD, ENPP1, EPB42, EPM2A, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYS, F11, F2, F5, F8, F9, FAH, FAM161A, FAM20C, FANCA, FANCB, FANCC, FANCG, FASTKD2, FBLN5, FBP1, FERMT3, FGA, FGB, FGD4, FGG, FH, FKRP, FKTN, FLNA, FMR1, FMO3, FOLR1, FOXN1, FOXP3, FRAS1, FREM2, FTSJ1, FUCA1, G6PC1, G6PC3, G6PD, GAA, GBA1, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATA1, GATM, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GDF5, GDI1, GFM1, GJA1, GJB1, GJB2, GJB3, GJB6, GJC2, GLA, GLB1, GLDC, GLE1, GNE, GNPTAB, GNPTG, GNRHR, GNS, GP1BA, GP1BB, GP9, GPC3, GRHPR, GRIK2, GRIP1, GSS, GTF2H5, GUCY2D, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HESX1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMGCL, HMGCS2, HMOX1, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HUWE1, HSD3B2, HSD3B7, HSPG2, HYAL1, HYCC1, HYLS1, ICOS, IDS, IDUA, IFNGR1, IFNGR2, IFT80, IGBP1, IGF1, IGHMBP2, IGSF1, IL12B, IL12RB1, IL1RAPL1, IL1RN, IL2RG, IL7R, INPP5E, INS, INSR, INVS, IQCB1, ITGA6, ITGB3, ITGB4, IVD, IYD, JAK3, KCNJ1, KCNJ11, KCNQ1, KCTD7, KDM5C, KRT18, L1CAM, LAMA2, LAMA3, LAMB2, LAMB3, LAMC2, LARGE1, LBR, LCA5, LDLR, LDLRAP1, LHCGR, LHX3, LIFR, LIG4, LIPA, LIPH, LMBRD1, LMNA, LOXHD1, LPL, LRP2, LRP5, LRPPRC, LYST, MAN2B1, MAT1A, MBTPS2, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MECP2, MED12, MED17, MEFV, MESP2, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPL, MPV17, MPZ, MRE11, MRPS16, MRPS22, MTHFR, MTM1, MTR, MTRR, MTTP, MUTYH, MVK, MYD88, MYO15A, MYO5A, MYO7A, NAGA, NAGLU, NAGS, NBN, NDP, NDRG1, NDUFA1, NDUFAF2, NDUFAF4, NDUFAF5, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEU1, NEUROG3, NHEJ1, NHLRC1, NHS, NLGN4X, NLRP7, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B1, NR2E3, NSUN2, NTRK1, NUP62, OAT, OCA2, OCRL, OFD1, OPA3, OPHN1, ORAI1, OSTM1, OTC, OXCT1, P3H1, PAH, PAK3, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PCDH19, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX2, PEX5, PEX6, PEX7, PFKM, PHGDH, PHKB, PIGN, PKHD1, PKLR, PLA2G6, PLCE1, PLEC, PLEKHG5, PLG, PLOD1, PLP1, PMM2, PMP22, PNPO, POLG, POLH, POMGNT1, POMT1, POMT2, POR, POU1F1, PPT1, PQBP1, PREPL, PRF1, PROC, PROP1, PRPS1, PRSS12, PRX, PSAP, PSAT1, PTH1R, PTPRC, PTS, PUS1, PYGL, PYGM, QDPR, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAG1, RAG2, RAPSN, RARS2, RDH12, RELN, REN, RFT1, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RPE65, RPGR, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RS1, RTEL1, SACS, SAMD9, SAMHD1, SBDS, SC5D, SCN2A, SCN8A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SEPSECS, SERPINA1, SFTPB, SFTPC, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SHROOM4, SIL1, SKIC3, SLC12A1, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC26A2, SLC26A3, SLC26A4, SLC2A1, SLC34A1, SLC34A2, SLC35A1, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC4A1, SLC4A11, SLC5A2, SLC5A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SMARCAL1, SMN1, SMPD1, SNAP29, SOX3, SP110, SPR, SRD5A2, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STIM1, STRA6, STX11, STXBP1, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYP, TAFAZZIN, TAT, TBCE, TCIRG1, TECPR2, TF, TFR2, TG, TGM1, TH, TIMM8A, TK2, TMC1, TMEM216, TMEM67, TNFRSF11B, TNNT1, TPO, TPP1, TRAPPC9, TREX1, TRHR, TRIM32, TRIM37, TRMU, TSEN54, TSFM, TSHB, TSHR, TSPYL1, TTN, TTPA, TUFM, TUSC3, TWNK, TYMP, TYR, TYRP1, UBA1, UBE2A, UBR1, UGT1A1, UNC13D, UPB1, UPF3B, UQCRB, UQCRQ, UROS, USH1C, USH1G, USH2A, VDR, VIPAS39, VLDLR, VPS13A, VPS13B, VPS33B, VPS45, VPS53, VRK1, VSX2, VWF, WAS, WNT10A, WNT3, WNT7A, WRN, XIAP, XPA, XPC, ZDHHC9, ZFYVE26, ZIC3, ZMPSTE24, ZNF469, ZNF711

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen

Versand

Post oder hauseigener Fahrdienst

Kosten

Die Untersuchung ist ausschließlich auf Selbstzahler-Basis für gesetzlich Versicherte oder für privatversicherte Patienten als Privatleistung (Gebührenstellung nach GOÄ) verfügbar.