DANAK

Reg. No. 1021 Accreditation for medical examination

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IUPAC System Component Method Equipment/Principle Location
Metaphase chromosomes
Metafasekromosomer (fra blod, CVS, amnionvæske, vævsbiopsi)
Karyotyping of cultivated cells
Kromosomanalyse af dyrkede celler for antalsfejl og strukturelle anomalier
Chromosome analysis of pre- and postnatal samples
Kromosomanalyse af præ- og postnatale prøver
Cell cultivation, karyotyping
Celledyrkning, karyotypering
Metaphase chromosomes
Metafasekromosomer (fra blod, CVS, amnionvæske, vævsbiopsi)
FISH-analyse for antalsfejl og strukturelle anomalier.
FISH-analyse for antalsfejl og strukturelle anomalier.
FISH
FISH
Cell cultivation, FISH
Celledyrkning, FISH
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Hearing loss, gene panel, clinically suspect of hereditary hearing loss: ACTG1, ADCY1, BDP1, BSND, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL4A6, COL11A2, CRYM, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM65B, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HGF, HOMER2, ILDR1, KARS, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH9, MYH14, MYO1A, MYO3A, MYO6, MYO7A, MYO15A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TJP2, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1
Høretab, genpanel, klinisk mistanke om arvelig høretab: ACTG1, ADCY1, BDP1, BSND, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL4A6, COL11A2, CRYM, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM65B, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HGF, HOMER2, ILDR1, KARS, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH9, MYH14, MYO1A, MYO3A, MYO6, MYO7A, MYO15A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TJP2, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1
Hearing loss, gene panel
Høretab, genpanel
DNA extraction, SNP analysis, Illumina at FNE, AUH; sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
Noonan syndrome, gene panel: A2ML1, BRAF, CBL, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, HRAS, SPRED1, KAT6B
Noonan syndrom, genpanel: A2ML1, BRAF, CBL, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, HRAS, SPRED1, KAT6B
Noonan, panel
Noonan, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood, tissue biopsies)
Genomisk DNA (fra blod, vævsbiopsier)
Palmoplantar keratoderma (incl. Darier sygdom), gene panel: AAGAB, ADAM10, AP1S3, AQP5, ATP2A2, ATP2C1, BCO1, CAST, CTSC, DSC2, DSG1, DSP, GJB2, JUP, KANK2, KRT1, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT9, RHBDF2, RSPO1, SASH1, SERPINB7, SLURP1, TAT
Palmoplantar keratoderma (inkl. Darier sygdom), genpanel: AAGAB, ADAM10, AP1S3, AQP5, ATP2A2, ATP2C1, BCO1, CAST, CTSC, DSC2, DSG1, DSP, GJB2, JUP, KANK2, KRT1, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT9, RHBDF2, RSPO1, SASH1, SERPINB7, SLURP1, TAT
Palmoplantar keratoderma, panel
Palmoplantar keratoderma, panel
DNA ekstraction, Illumina NGS at FNE, AUH
DNA ekstraktion, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood, tissue biopsies)
Genomisk DNA (fra blod, vævsbiopsier)
Epidermolysis bullosa, gene panel: CAST, CD151, CHST8, CPOX, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FECH, FERMT1, HMBS, ITGA3, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, PPOX, RBPJ, SERPINB8, TFAP2A, TGM5, UROD, UROS
Epidermolysis bullosa, genpanel: CAST, CD151, CHST8, CPOX, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FECH, FERMT1, HMBS, ITGA3, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, PPOX, RBPJ, SERPINB8, TFAP2A, TGM5, UROD, UROS
Epidermolysis bullosa, panel
Epidermolysis bullosa, panel
DNA ekstraction, Illumina NGS at FNE, AUH
DNA ekstraktion, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomis DNA (from blood)
Genomisk DNA (fra blod)
Charcot-Marie-Tooths disease (CMT) demyelinating or axonal type, gene panel: AARS, ABHD12, AIFM1, ARHGEF10, ATL3, C10orf2, C12orf65, CCT5, COX6A1, CTDP1, DCAF8, DHTKD1, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SCN10A, SETX, SH3TC2, SLC25A46, SOX10, SPG11, SURF1, TDP1, TFG, TRIM2, TRPV4, TTR, TUBB3, VCP, YARS
Charcot-Marie-Tooth (CMT), genpanel. Klinisk mistanke om CMT af demyeliniserende, axonal eller intermediær type: AARS, ABHD12, AIFM1, ARHGEF10, ATL3, C10orf2, C12orf65, CCT5, COX6A1, CTDP1, DCAF8, DHTKD1, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SCN10A, SETX, SH3TC2, SLC25A46, SOX10, SPG11, SURF1, TDP1, TFG, TRIM2, TRPV4, TTR, TUBB3, VCP, YARS
CMT, panel
CMT, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood, tissue biopsis)
Genomisk DNA (fra blod, vævsbiopsier)
Ektodermal dysplasia, gene panel: ABCC9, ADAM10, ADAM17, AGPAT2, AIRE, ALPL, ALX4, AMELX, ANKRD11, ANTXR1, ANTXR2, APCDD1, ARHGAP31, ARID1A, ARID1B, ATP2C1, AXIN2, B3GALT6, BANF1, BCOR, BCS1L, BRAF, BSCL2, C4orf26, CBS, CDAN1, CDH3, CNNM4, COL11A1, COX4I2, CTSC, CYP26C1, DCAF17, DCLRE1C, DHCR7, DLL4, DLX3, DSC2, DSC3, DSG4, DSP, DSPP, ECM1, EDA, EDAR, EDARADD, EDNRA, EFNB1, EIF2AK3, ENAM, ENPP1, EOGT, EVC, EVC2, FAM20A, FAM83H, FDPS, FGF10, FGF23, FGF3, FGFR3, FOXN1, FOXP3, FREM1, FUCA1, FZD6, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, HOXC13, HPGD, HR, HRAS, IFT122, IFT43, IL36RN, IRF6, IRX5, ITGA3, ITGB6, KLK4, KRAS, KRT13, KRT17, KRT25, KRT6A, KRT6B, KRT6C, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LMNA, LONP1, LPAR6, LTBP3, MMP20, MPLKIP, MSX1, MVK, NECTIN1, NECTIN4, NFKBIA, NLRP1, NLRP3, NOTCH1, NRAS, PAX3, PAX9, PHEX, PIGV, PITX2, PKP1, PLCD1, PLCG2, POC1A, POLR1C, POLR3A, POLR3B, PORCN, PTCH1, PTCH2, PTEN, PTHLH, RBM28, RBPJ, RIN2, RMRP, RPL21, RSPO4, RUNX2, SATB2, SEC23A, SETBP1, SHOC2, SLC24A4, SLC39A4, SLC4A4, SLC6A19, SMARCAD1, SMARCAL1, SMOC2, SNAI2, SNRPE, SOX18, STAT5B, SUFU, TBX3, TFAP2A, TMC6, TMC8, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRPS1, TWIST2, UBR1, WDR19, WDR35, WDR72, WNT10A, WNT10B, WNT5A, WNT7A, ZMPSTE24
Ektodermal dysplasi, genpanel: ABCC9, ADAM10, ADAM17, AGPAT2, AIRE, ALPL, ALX4, AMELX, ANKRD11, ANTXR1, ANTXR2, APCDD1, ARHGAP31, ARID1A, ARID1B, ATP2C1, AXIN2, B3GALT6, BANF1, BCOR, BCS1L, BRAF, BSCL2, C4orf26, CBS, CDAN1, CDH3, CNNM4, COL11A1, COX4I2, CTSC, CYP26C1, DCAF17, DCLRE1C, DHCR7, DLL4, DLX3, DSC2, DSC3, DSG4, DSP, DSPP, ECM1, EDA, EDAR, EDARADD, EDNRA, EFNB1, EIF2AK3, ENAM, ENPP1, EOGT, EVC, EVC2, FAM20A, FAM83H, FDPS, FGF10, FGF23, FGF3, FGFR3, FOXN1, FOXP3, FREM1, FUCA1, FZD6, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, HOXC13, HPGD, HR, HRAS, IFT122, IFT43, IL36RN, IRF6, IRX5, ITGA3, ITGB6, KLK4, KRAS, KRT13, KRT17, KRT25, KRT6A, KRT6B, KRT6C, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LMNA, LONP1, LPAR6, LTBP3, MMP20, MPLKIP, MSX1, MVK, NECTIN1, NECTIN4, NFKBIA, NLRP1, NLRP3, NOTCH1, NRAS, PAX3, PAX9, PHEX, PIGV, PITX2, PKP1, PLCD1, PLCG2, POC1A, POLR1C, POLR3A, POLR3B, PORCN, PTCH1, PTCH2, PTEN, PTHLH, RBM28, RBPJ, RIN2, RMRP, RPL21, RSPO4, RUNX2, SATB2, SEC23A, SETBP1, SHOC2, SLC24A4, SLC39A4, SLC4A4, SLC6A19, SMARCAD1, SMARCAL1, SMOC2, SNAI2, SNRPE, SOX18, STAT5B, SUFU, TBX3, TFAP2A, TMC6, TMC8, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRPS1, TWIST2, UBR1, WDR19, WDR35, WDR72, WNT10A, WNT10B, WNT5A, WNT7A, ZMPSTE24
Ektodermal dysplasia, panel
Ektodermal dysplasi, panel
DNA ekstraktion, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
GJB2/6 and SLC26A4 related hearing loss, GJB2, GJB6, SLC26A4; sekv.var
GJB2/6 og SLC26A4 relateret høretab, GJB2, GJB6, SLC26A4; sekv.var
GJB2, GJB6, SLC26A4
GJB2, GJB6, SLC26A4
DNA extraction, SNP analysis, Illumina NGS at FNE, AUH; sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood, tissue biopsies)
Genomisk DNA (fra blod, vævsbiopsier)
Ichtyosis, gene panel: ABCA12, ABHD5, ADAMTS17, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, ATL1, CARD14, CERS3, CHKB, CHST8, CLDN1, COG6, CSTA, CYP4F22, DOLK, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2H5, KRT1, KRT10, KRT2, LIPN, LOR, MBTPS2, MPDU1, MPLKIP, NIPAL4, NSDHL, PEX7, PHGDH, PHYH, PIGA, PIGL, PMVK, PNPLA1, POMP, PSAT1, PSPH, SERPINB8, SLC27A4, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TGM1, TRPV3, VPS33B
Ichtyosis, genpanel: ABCA12, ABHD5, ADAMTS17, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, ATL1, CARD14, CERS3, CHKB, CHST8, CLDN1, COG6, CSTA, CYP4F22, DOLK, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2H5, KRT1, KRT10, KRT2, LIPN, LOR, MBTPS2, MPDU1, MPLKIP, NIPAL4, NSDHL, PEX7, PHGDH, PHYH, PIGA, PIGL, PMVK, PNPLA1, POMP, PSAT1, PSPH, SERPINB8, SLC27A4, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TGM1, TRPV3, VPS33B
Ichtyosis, panel
Ichtyosis, panel
DNA ekstraktion, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
Polycystic kidney disease, gene panel: GANAB, HNF1B, PKD1, PKD2, PKHD1, TMEM67
Polycystisk nyresygdom, genpanel: GANAB, HNF1B, PKD1, PKD2, PKHD1, TMEM67
PKD, panel
PKD, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
Livercholestasis, gene panel: ATP8B1; ABCB11, ABCC4, ABCG5, ABCC2, JAG1, NOTCH2, TJP2, UGT1A1
Leverkolestase, genpanel: ATP8B1; ABCB11, ABCC4, ABCG5, ABCC2, JAG1, NOTCH2, TJP2, UGT1A1
Livercholestasis, panel
Leverkolestase, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
Neurofibromatosis, gene panel: NF1, SPRED1
Neurofibromatose, genpanel: NF1, SPRED1
NF1, panel
NF1, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Free circulating DNA from plasma
Frit cirkulerende DNA fra plasma
Non-invasive prenatal screening test (NIPT) for aneuploidi of 13, 18, 21, and sex chromosomes
Noninvasiv prænatal screeningstest (NIPT) for aneuploidi for 13, 18, 21 og kønskromosomer
NIPT
NIPT
DNA extraction, Whole Genome Sequencing
DNA ekstraktion, Whole Genome Sequencing