DANAK

Reg. No. 1023 Akkreditering til medicinsk undersøgelse

Side: 1
IUPAC System Komponent Metode Udstyr/Princip Lokation
Genomisk DNA COL1A1 COL1A2 Osteogenesis Imperfecta AmpliSeq, PGM NGS, Sanger kontrol
Genomisk DNA BRCA1 BRCA2 Bryst- og ovariekræft AmpliSeq, PGM NGS, Sanger kontrol
Genomisk DNA BRCA1 BRCA2 CHEK2 PALB2 BRIP1 TP53 ATM Bryst- og ovariekræft AmpliSeq, PGM NGS, Sanger kontrol
Genomisk DNA APC BMPR1A CHEK2 EPCAM MLH1 MSH2 MSH6 MUTYH PMS1 PMS2 POLD1 PTEN SMAD4 STK11 TP53 Lynch Syndrom AmpliSeq, PGM NGS, Sanger kontrol
Genomisk DNA ALDH7A1 ALG13 ARHGEF9 CDKL5 CHD2 CPA6 DEPDC5 DNM1 GABBR1 GABBR2 GABRA1 GABRB3 GABRD GABRG2 GNAO1 GRIN1 GRIN2A GRIN2B HCN1 HDAC4 HNRNPU IQSEC2 KCNA2 KCNQ2 KCNQ3 KCNT1 KCTD7 LGI1 MBD5 PCDH19 PLCB1 PNPO PRRT2 SCN1A SCN1B SCN2A SCN8A SLC25A22 SLC2A1 SLC35A3 SPTAN1 STX1B STXBP1 SYNGAP1 TBC1D24 Childhood Epilepsy AmpliSeq, PGM NGS, Sanger kontrol
Genomisk DNA CERS1, CERS2, COL6A2, CSTB, EPM2A, GOSR2, KCTD7, NHLRC1, PRICKLE1, PRICKLE2, SCARB2, KCNC1 p.Arg320His Progressiv Myoklon Epilepsi AmpliSeq, PGM NGS, Sanger kontrol
Genomisk DNA AKT3 ARFGEF2 ARX C6orf70 COL4A1 DCX DYNC1H1 DYRK1A EMX2 EOMES FLNA GPR56 HESX1 IER3IP1 KIF2A KIF5C MBD5 MEF2C MTOR NDE1 OCLN PAFAH1B1 PAX6 PIK3CA PIK3R2 RELN SHH SIX3 SRPX2 TBC1D24 TGIF1 TUBA1A TUBA8 TUBB2B TUBB3 TUBG1 VLDLR WDR62 ZEB2 ZIC2 Epilepsi hjernemisdannelse AmpliSeq, PGM NGS, Sanger kontrol
Genomisk DNA ABCA1 ADAMTS13 AGRP AIP AIRE ALPL AP2S1 APOA2 APOB ATP7B BMP1 CA2 CARTPT CASR CBS CDC73 CDKN1B CFTR CLCN5 CLCN7 CLCNKB COL1A1 COL1A2 CRTAP CYP27B1 CYP2R1 DPM1 ENPP1 EPHX2 F13A1 F2 F5 FGA FGF23 FKBP10 GATA3 GCM1 GCM2 GHR GNA11 GNAS HABP2 HADHA HADHB HRG IFITM5 IKBKG ITGB3 ITIH4 LDLR LDLRAP1 LEPRE1 LPL LRP5 MC4R MEN1 MICA MICB MMACHC MTHFR NR0B2 OSTM1 PCSK9 PHEX PLEKHM1 PLG PLOD2 PLS3 POMC PPIB PPP1R17 PROC PROS1 PROZ PTH PTH1R SERPINC1 SERPIND1 SERPINF1 SERPINH1 SIM1 SLC22A5 SLC34A3 SNX10 SP7 STX16 TBX1 TCIRG1 THBD TMEM38B TNFRSF11A TNFSF11 TSHR UCP1 UCP3 VDR WNT1 Endokrinologi SureSelect, PGM NGS, Sanger kontrol
Genomisk DNA ADSL, ALDH7A1, ALG13, ARHGEF9, ATP1A2, ATP1A3, ATRX, CACNA1A, CACNA1D, CACNB4, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CNKSR2, CUX2, DEPDC5, DNM1, DOCK3, DOCK7, EEF1A2, FOXG1, GABBR1, GABBR2, GABRA1, GABRA3, GABRB3, GABRD, GABRG2, GAMT, GATM, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, HUWE1, IQSEC2, KANK1, KCNA2, KCNB1, KCND2, KCNH5, KCNH8, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MTOR, NPRL2, NPRL3, NRXN1, PCDH19, PIGA, PIGO, PIGQ, PIGT, PIGV, PIGX, PIK3AP1, PIK3R2, PLCB1, PNKP, PNPO, POLG, PRRT2, PURA, RELN, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SLC12A5, SLC13A5, SLC1A2, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SPTAN1, ST3GAL3, STX1B, STXBP1, SYNGAP1, SYT1, TBC1D24, TCF4, UBE3A, UGDH, WWOX, ZDHHC9 Childhood epilepsy - 105 gener SureSelect, PGM NGS, Sanger kontrol
Genomisk DNA ACSL4, ACTB, ACTG1, ACY1, ADAT3, ADCY5, ADGRG1, ADNP, ADRA2B, ADSL, AFF2, AFF3, AGA, AGO1, AGTR2, AHI1, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG3, ALG6, AMT, ANK3, ANKH, ANKRD11, ANOS1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARSA, ASAH1, ASH1L, ASL, ASPA, ASPM, ASS1, ASXL3, ATP1A2, ATP1A3, ATP6AP2, ATP6V1A, ATP7A, ATP7B, ATR, ATRX, AUTS2, BCKDHA, BCKDHB, BCKDK, BCOR, BPTF, BRWD3, BTD, C12orf57, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNB4, CACNG2, CAMK2A, CAMK2B, CAMTA1, CASK, CASR, CBS, CC2D1A, CCDC22, CDH15, CDK5RAP2, CDK6, CDKL5, CENPJ, CEP152, CERS1, CERS2, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLIC2, CLIP1, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNOT3, CNTNAP2, COG5, COL4A1, COL4A3BP, COL6A2, CPS1, CRADD, CRBN, CREBBP, CSTB, CTNNB1, CTSF, CUL4B, CUX1, CUX2, CYP27A1, CYP2U1, D2HGDH, DBT, DCX, DDHD2, DDX3X, DEAF1, DEPDC5, DHCR7, DHDDS, DIP2B, DKC1, DLAT, DLD, DLG2, DLG3, DMD, DNM1, DNM3, DNMT3A, DOCK3, DOCK7, DOCK8, DPAGT1, DPM1, DSCAM, DYNC1H1, DYRK1A, EEF1A2, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4E, ELP2, EN2, EP300, EPB41L1, EPG5, EPM2A, ERLIN2, ERMARD, EZR, FBXO31, FGD1, FLNA, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FRMPD4, FTCD, FTSJ1, FUCA1, GABBR1, GABBR2, GABRA1, GABRA3, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GALT, GAMT, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GK, GLDC, GLRA1, GLRB, GLUD1, GNAO1, GOSR2, GPAA1, GPC3, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN3A, GRIN3B, GRIP1, GUSB, HACE1, HAL, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HEPACAM, HESX1, HEXA, HGSNAT, HIVEP2, HNRNPU, HOXA1, HPRT1, HRAS, HSD17B10, HUWE1, IDH2, IDS, IDUA, IER3IP1, IGBP1, IGF1, IGF1R, IL1RAPL1, IQSEC2, IRF2BPL, ITPA, ITPR1, IVD, KANSL1, KAT6B, KCNA1, KCNA2, KCNB1, KCND2, KCNH1, KCNH5, KCNH8, KCNJ10, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD7, KDM5C, KDM6A, KIAA2022, KIF11, KIF1A, KIF2A, KIF4A, KIF5C, KIRREL3, KLF8, KLHL15, KMT2A, KMT2C, KMT2D, KMT2E, L1CAM, LAMA1, LAMC3, LAMP2, LARS2, LAS1L, LGI1, LINS1, LRP1, LRP2, LRP4, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAPK8IP1, MAPK8IP2, MAPK8IP3, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED17, MED23, MEF2C, MFSD8, MICU1, MID1, MID2, MMACHC, MOCS1, MOCS2, MPI, MTHFR, MTOR, MTR, MT-TL1, MUT, MYCN, MYT1L, NAA10, NAA15, NAGLU, NBEA, NDE1, NDP, NDST1, NDUFA1, NECAP1, NEDD4L, NF1, NFIX, NHLRC1, NHS, NIPBL, NLGN3, NLGN4X, NPC1, NPC2, NPRL2, NPRL3, NRXN1, NRXN2, NSD1, NSDHL, NSUN2, NTNG1, NTRK2, NUS1, OCLN, OCRL, OFD1, OPHN1, OSGEP, OTC, OTUD6B, PACS1, PACS2, PAFAH1B1, PAH, PAK3, PANK2, PAX6, PCCA, PCCB, PCDH19, PCNT, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX12, PEX16, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PHF6, PHF8, PHGDH, PHIP, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGV, PIGW, PIGX, PIGY, PIK3CA, PLCB1, PLP1, PMM2, PMPCB, PNKP, PNPO, POGZ, POLG, POMGNT1, PORCN, POU1F1, PPM1D, PPP2R5D, PPP3CA, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRKRA, PRODH, PRPS1, PRRT2, PRSS12, PSAP, PTCHD1, PTEN, PTPN11, PTS, PURA, QARS, QRICH1, RAB11A, RAB39B, RAI1, RBM10, RELN, RHOBTB2, RLIM, RNF135, RORA, RORB, RPL10, RPS6KA3, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SERAC1, SERPINI1, SETBP1, SETD2, SETD5, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHROOM4, SIX3, SKI, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC1A1, SLC1A2, SLC25A13, SLC25A15, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC35C1, SLC46A1, SLC6A1, SLC6A4, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMS, SNAP25, SOBP, SON, SOX11, SOX5, SPAST, SPTAN1, SRCAP, SRD5A3, ST3GAL3, ST3GAL5, STIL, STX1A, STX1B, STXBP1, SYN1, SYNE1, SYNGAP1, SYP, SYT1, TAF1, TAF2, TANGO2, TBC1D24, TBL1XR1, TBR1, TCF4, TECR, TGIF1, TIMM8A, TNK2, TP53RK, TPP1, TPRKB, TRAPPC9, TREX1, TRIO, TRIP12, TSC1, TSC2, TSPAN7, TTI2, TUBA1A, TUBA8, TUBB3, TUBG1, TUSC3, UBE2A, UBE3A, UBE3B, UBR1, UGDH, UNC80, UPB1, UPF3B, UROC1, USP27X, USP9X, VCP, VLDLR, VPS13B, WASHC4, WDFY3, WDR45, WDR62, WWOX, YWHAG, ZBTB18, ZBTB20, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZIC2, ZMYM3, ZMYND11, ZNF41, ZNF711, ZSWIM6 Epilepsi, ID, Autisme Virtuelt panel fra SureSelect exom, NovaSeq 6000, Sanger kontrol