DANAK

Reg. No. 1012 Akkreditering til medicinsk undersøgelse

Side: 1 2 all
IUPAC System Komponent Metode Udstyr/Princip Lokation
Genomisk DNA Albinisme, oculocutan eller oculær. Mutationsscreening genpanel EYEv2 (AP3B1, BLOC1S3, BLOC1S6, LRMDA (C10orf11), CACNA1F, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MITF, MLPH, MYO5A , OCA2, RAB27A , rs147546939, rs187887338, rs529135220, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1) eller genpanel OCAvp_tw_v1 (AP3B1, BLOC1S6, CACNA1A, CACNA1F, CASK, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, OCA2, PAX6, RAB27A, SACS, SETX, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1, AHR, AP3D1, BLOC1S3, DTNBP1, MANBA, MLPH, MYO5A, TULP1, BLOC1S5), bæreranalyse, prænatal diagnostik “Albinisme, Oculocutan og oculær"; "OCAvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
msMLPA og PCR: Genomisk DNA. FISH: Metafasekromosomer Angelman syndrom. Methyleringsundersøgelse, undersøgelse for uniparental disomi (UPD), mikrodeletionsundersøgelse "Angelman syndrom" DNA ekstraktion, msMLPA, PCR, celledyrkning, FISH
QF-PCR: Genomisk DNA. FISH: Interfasekromosomer Aneuploidier (postnatal undersøgelse, eller undersøgelse af abortvæv). QF-PCR, Interfase FISH "QF-PCR", "FISH analyse for aneuploidi af kromosom 13, 18, 21, X og Y på interfaseceller - Mikroskopi og svarafgivelse" DNA ekstraktion, QF-PCR, FISH KC
Genomisk DNA Aniridi. Mutationsscreening (genpanel EYEv2: PAX6) (enkeltgenanalyse: PAX6), bæreranalyse, prænatal diagnostik "Aniridi og WAGR (PAX6)" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA ARX undersøgelse. Mutationsscreening, bæreranalyse, prænatal diagnostik "ARX" DNA ekstraktion, PCR, Sanger sekventering
Genomisk DNA Beckwith-Wiedemann syndrom. Methyleringsundersøgelse, undersøgelse for uniparental disomi (UPD), CDKN1C mutationsscreening "Beckwith-Wiedemann syndrom (msMLPA ME030, UPD11, CDKN1C)" DNA ekstraktion, msMLPA, PCR, Sanger sekventering
Genomisk DNA BH4 mangel (DHPR defekt/QDPR genet; GCH1 defekt/GCH1 genet; PTS defekt/PTS genet; SPR defekt/SPR genet). Mutationsscreening, bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik "Dihydropteridine reductase deficiency (QDPR)", "GTP cyclohydrolase I deficiency (GCH1)", "PTS 6-pyrovoyltetrahydropterine synthase deficiency (PTS)", "Sepiapterine reductase deficiency (SPR, SR)" DNA ekstraktion, PCR, Sanger sekventering, MLPA
Genomisk DNA Deletions- / duplikationsundersøgelse. qPCR. Postnatal diagnostik, bærerundersøgelse, prænatal diagnostik "Real-Time quantitative PCR (qPCR)" DNA ekstraktion, qPCR
Genomisk DNA Doparesponsiv dystoni (TH defekt/Segawa syndrom/TH genet; GCH1 defekt/Segawa syndrom/GCH1 genet; SPR defekt/SPR genet). Mutationsscreening, bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik "Tyrosine hydroxylase deficiency (TH)", "GTP cyclohydrolase I deficiency (GCH1)", "Sepiapterine reductase deficiency (SPR, SR)" DNA ekstraktion, PCR, Sanger sekventering, MLPA
Genomisk DNA Glaukom, primær åbenvinklet (POAG), (GLC1A/MYOC genet; GLC1E/OPTN genet; GLC1G/WDR36 genet). Mutationsscreening, undersøgelse for specificeret mutation "Glaucom, Primær Åbenvinklet (POAG/GLC1A/MYOC; POAG/GLC1E/OPTN; POAG/GLC1G/WDR36)" DNA ekstraktion, PCR, Sanger sekventering
Genomisk DNA Glaukom, primær kongenit (PCG). Mutationsscreening (genpanel PCGvp_tw_v1: ADAMTS10, ADAMTS17, B3GLCT, COL4A1, CPAMD8, CYP1B1, FOXC1, FOXD3, FOXE3, LTBP2, MYOC, OPTN, PAX6, PITX2, PITX3, PXDN, TEK, WDR36), bæreranalyse, prænatal diagnostik “Glaucom, Primær Congenit (PCG)”; "PCGvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA ekstraktion, PCR, Sanger sekventering KC
Metafasekromosomer Kromosomafvigelser, konstitutionelle. Karyotypering ”Kromosomanalyse af postnatale prøver ved hjælp af G-bånd” Celledyrkning, karyotypering
Metafasekromosomer, interfasekromosomer Kromosomafvigelser submikroskopiske, konstitutionelle. FISH "FISH analyse for konstitutionelle og erhvervede kromosomafvigelser - Mikroskopi og svarafgivelse" Celledyrkning, FISH
Genomisk DNA MECP2 duplikationssyndrom "Lubs X bunden mental retardering syndrom (MRXSL) /MECP2 duplikation syndrom" DNA ekstraktion, MLPA
Genomisk DNA Menkes sygdom og Occipital Horn Syndrom, DNA analyser (ATP7A genet). Mutationsscreening, Bæreranalyse, Prænatal diagnostik "Menkes sygdom (ATP7A)" DNA ekstraktion, PCR, Sanger sekventering, MLPA
Genomisk DNA Mikrofthalmi/ klinisk anofthalmi. Mutationsscreening genpanel EYEv2 (ABCB6, ALDH1A3, ALX1, B3GALTL, BCOR, BMP4, COL4A1, CRYBA4, CYP1B1, EYA1, FOXC1, FOXE3, FREM1, FREM2, GDF3, GDF6, GJA1, GLI3, HCCS, KERA, LAMB2, MFRP, NHS, ODZ3, OTX2, PAX2, PAX6, PITX2, PITX3, PORCN, PRSS56, RARB, RAX, SIX6, SMOC1, SOX2, STRA6, TFAP2A, VAX1, VSX2) eller genpanel MOvp_tw_v1 (ALDH1A3, BCOR, BMP4, COL4A1, FOXC1, FOXE3, FRAS1, FREM1, FREM2, GRIP1, HCCS, KMT2D, MAB21L2, MFRP, MYRF, OTX2, PAX2, PAX6, PITX2, PRSS56, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, SHH, SIX6, SMO, SMOC1, SOX2, STRA6, TBC1D20, TMEM98, VSX2, C16orf62, TUBGCP4), bæreranalyse, prænatal diagnostik "Mikroftalmi (øjenmalformation)"; "MOvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA Mola hydatidosa, ploidibestemmelse "Mola hydatidosa - Ploidibestemmelse" DNA ekstraktion, QF-PCR, msMLPA KC
Genomisk DNA Mutationsundersøgelse, kendt(e) mutation(er), customized, bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik "Customised Sekvens analyse" DNA ekstraktion, PCR, Sanger sekventering
Genomisk DNA "Opticus atrofi. Mutationsscreening (genpanel EYEv2: OPA1, OPA3 eller genpanel OPNvp_tw_v1: ACO2, C12orf65, C19orf12, CISD2, DNM1L, MFF, MFN2, MT-ATP6, MT-ND1, MT-ND4, MT-ND6, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SLC52A2, SPG7, SSBP1, TMEM126A, WFS1, AFG3L2, AP3B2, ATAD3A, FDXR, MECR, NBAS, POLG, TIMM8A, UCHL1), undersøgelse for specificeret mutation, prænatal diagnostik " "Opticus Atrofi"; OPNvp_tw_v1 - Valideringsskema for virtuelt genpanel DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA KC
Genomisk DNA Phenylketonuri (PKU), DNA analyser (PAH genet). Mutationsscreening, bæreranalyse, prænatal diagnostik "Phenylketonuria, PKU (PAH)" DNA ekstraktion, PCR, Sanger sekventering, MLPA
MLPA: Genomisk DNA. FISH: Metafasekromosomer Prader-Willi syndrom. Methyleringsundersøgelse, undersøgelse for uniparental disomi (UPD), mikrodeletionsundersøgelse Prader-Willi syndrom DNA ekstraktion, msMLPA, PCR, celledyrkning, FISH
Genomisk DNA Silver-Russell syndrom. Methyleringsundersøgelse, undersøgelse for uniparental disomi (UPD) "Silver-Russell syndrom" DNA ekstraktion, msMLPA, PCR
Genomisk DNA Tuberøs sclerose (TSC2 genet). Mutationsscreening, undersøgelse for specificeret mutation, prænatal diagnostik "Tuberøs Sclerose (TSC2)" DNA ekstraktion, PCR, Sanger sekventering
Genomisk DNA Uniparental disomi (UPD) "Uniparental disomi" DNA ekstraktion, PCR
Genomisk DNA WAGR. Mikrodeletionsundersøgelse "Aniridi og WAGR (PAX6)" DNA ekstraktion, MLPA
Genomisk DNA Wilson sygdom (ATP7B genet). Mutationsscreening, bæreranalyse, prænatal diagnostik "Wilson sygdom (ATP7B)" DNA ekstraktion, PCR, Sanger sekventering, MLPA
Genomisk DNA X-inaktivering, skæv "X-inaktivering" PCR
Blodprøvetagning, venepunktur "Blodprøvetagning på Kennedy Centret"
Prøvetagning, hudbiopsi "Prøvetagning af hudbiopsi på Kennedy Centret"
Genomisk DNA "Axenfeld-Rieger syndrom. Mutationsscreening (genpanel EYEv2: B3GALTL; CYP1B1; FOXC1; FOXE3; PAX6; PITX2; PITX3 eller genpanel ARSvp_tw_v1: B3GLCT, COL4A1, CPAMD8, CYP1B1, FOXC1, FOXE3, GJA8, PAX6, PITX2, PITX3, PXDN) (enkeltgen undersøgelse: PITX2; FOXC1), undersøgelse for specificeret mutation, prænatal diagnostik " “Axenfeld-Rieger syndrome og Peters anomali”; ARSvp_tw_v1 - Valideringsskema for virtuelt genpanel DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA KC
Genomisk DNA Dystoni, torsions-, early onset (DYT1/TOR1A genet). Mutationsscreening, undersøgelse for specificeret mutation, prænatal diagnostik “Early-Onset Torsion Dystonia; DYT1 (TOR1A)” DNA ekstraktion, PCR, Sanger sekventering
Genomisk DNA Dystoni, torsions-, adult-onset, mixed type (DYT6/THAP1 genet). Mutationsscreening, undersøgelse for specificeret mutation, prænatal diagnostik “Torsion Dystonia, Adult-onset, Mixed type; DYT6 (THAP1)” DNA ekstraktion, PCR, Sanger sekventering
Genomisk DNA Cornelia de Lange syndrom. Mutationsscreening genpanel CdLSvp_tw_v1 (NIPBL, RAD21, SMC1A, SMC3, HDAC8, BRD4, EP300, ANKRD11, AFF4, NAA10, TAF6, MAU2, WAPL, PDS5A, STAG1, STAG2), bæreranalyse, prænatal diagnostik “Cornelia de Lange syndrom - NGS gen panel"; "CdLSvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA ekstraktion, NGS, MLPA, PCR, Sanger sekventering
Genomisk DNA "Peters anomali. Mutationsscreening (genpanel EYEv2: B3GALTL; CYP1B1; FOXC1; FOXE3; PAX6; PITX2; PITX3 eller genpanel ARSvp_tw_v1: B3GLCT, COL4A1, CPAMD8, CYP1B1, FOXC1, FOXE3, GJA8, PAX6, PITX2, PITX3, PXDN), bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik" “Axenfeld-Rieger syndrome og Peters anomali”; ARSvp_tw_v1 - Valideringsskema for virtuelt genpanel DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA KC
Genomisk DNA Forkammerdefekter (øjen). Mutationsscreening (genpanel EYEv2: B3GALTL; COL4A1; CYP1B1; EYA1; FOXC1; FOXE3; KERA; LAMB2; PAX2; PAX6; PITX2; PITX3; PORCN eller genpanel ASDvp_tw_v1: B3GALTL, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3, PORCN), bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik “Forkammer defekter (øjen) (Anterior segment defects)”; ASDvp_tw_v1 - Valideringsskema for virtuelt genpanel DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA KC
Genomisk DNA DFNB1. Mutationsscreening (enkeltgen undersøgelse: GJB2 genet; del(GJB6-D13S1830); del(GJB6-D13S1854)) (genpanel Hørenedsættelse HLv6: GJB2), undersøgelse for specificeret mutation, prænatal diagnostik “DFNB1” DNA ekstraktion, PCR, Sanger sekventering, NGS
Genomisk DNA Retinal dystrofi. Mutationsscreening genpanel RDv5 (ABCA4 ABCC6, ABHD12, ADAM9, ACO2, ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ARHGEF18, ARL2BP, ARL2BP, ARL6, ARSG, ATF6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21ORF2, C2ORF71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CDH23, CDH3, CDHR1, CEP19, CEP250, CEP290, CEP78, CERKL, CFH, CHM, CLCC1, CLN3, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CRB1, CRX, CTNNA1, CWC27, CYP4V2, DFNB31, DHDDS, DHX38, EFEMP1, ELOVL4, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FRMD7, GNAT1, GNAT2, GNB3, GPR125, GPR179, GPR98, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HGSNAT, IDH3A , IDH3B, IFT140, IFT172, IFT27, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIZ, KLHL7, LCA5, LRAT, LRIT3, LZTFL1, MAK, MERTK, MKKS, MKS1, MVK, MYO7A, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OPN1MW, OTX2, PCDH15, PCYT1A , PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PITPNM3, POC1B, POC5, POMGNT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SCAPER , SDCCAG8, SEMA4A, SLC24A1, SLC7A14, SNRNP200, SPATA7, TEAD1, TIMP3, TOPORS, TRIM32, TRNT1, TRPM1, TTC8, TTLL5, TULP1, USH1C, USH1G, USH2A, ZNF408, ZNF513) eller genpanel RDvp_tw_v1 (ABCA4, ABCC6, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, ADIPOR1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, AIRE, ALMS1, ARHGEF18, ARL2BP, ARL3, ARL6, ARSG, ASRGL1, ATF6, ATOH7, ATXN7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C12orf65, C21orf2, C2orf71, C8orf37, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCT2, CDH23, CDH3, CDHR1, CEP164, CEP19, CEP250, CEP290, CEP78, CERKL, CFH, CHM, CLCC1, CLUAP1,CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL18A1, COL4A1, CRB1, CRX, CSPP1, CTNNA1, CTNNB1, CTSD, CWC27, CYP2R1, CYP4V2, DHDDS, DHX38, DMD, DRAM2, EFEMP1, ELOVL1, ELOVL4, ERCC6, ERCC8, ESPN, EYS, EXOSC2, FAM161A, FLVCR1, FZD4, GNAT1,GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B,GUCY2D, HARS, HCCS,HGSNAT, HK1,HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT81, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, JAG1, KCNJ13, KCNV2, KIAA1549, KIF11, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MAPKAPK3, MERTK, MFRP, MFSD8, MIR204, MKKS, MKS1, MVK, MYO7A, NBAS, NDP, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OPN1MW, OPN1SW, OTX2, PANK2, PAX2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PGK1, PEX1, PEX2, PEX7, PHYH, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGS9, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SDCCAG8, SEMA4A, SLC24A1, SLC25A46, SLC37A3, SLC38A8, SPP2, NRNP200, SPATA7, SRD5A3, TIMM8A, TIMP3, TMEM237, TOPORS, TPP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBGCP4, TUBGCP6, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WHRN, ZNF408, ZNF423), bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik “Retinal dystrofi - NGS Genpanel"; "RDvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA Pendred syndrom og DFNB4 (SLC26A4 genet). Mutationsscreening (enkeltgen undersøgelse: SLC26A4) (genpanel Hørenedsættelse HLv6: SLC26A4; KCNJ10; FOXI1; SIX1) bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik “Pendred syndrom og DFNB4” DNA ekstraktion, MLPA, PCR, Sanger sekventering, NGS
Genomisk DNA Hermansky-Pudlak syndrom. Mutationsscreening (genpanel EYEv2: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6 eller genpanel OCAvp_tw_v1: AP3B1, BLOC1S6, CACNA1A, CACNA1F, CASK, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, OCA2, PAX6, RAB27A, SACS, SETX, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1, AHR, AP3D1, BLOC1S3, DTNBP1, MANBA, MLPH, MYO5A, TULP1, BLOC1S5), bæreranalyse, prænatal diagnostik “Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi"; OCAvp_tw_v1 - Valideringsskema for virtuelt genpanel DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA KC
Genomisk DNA Griscelli syndrom. Mutationsscreening (genpanel EYEv2: MLPH, MYO5A, RAB27A), bæreranalyse, prænatal diagnostik “Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi, NGS panel" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA Chediak-Higashi syndrom. Mutationsscreening (genpanel EYEv2: LYST eller genpanel OCAvp_tw_v1: AP3B1, BLOC1S6, CACNA1A, CACNA1F, CASK, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, OCA2, PAX6, RAB27A, SACS, SETX, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1, AHR, AP3D1, BLOC1S3, DTNBP1, MANBA, MLPH, MYO5A, TULP1, BLOC1S5), bæreranalyse, prænatal diagnostik “Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi, NGS panel"; OCAvp_tw_v1 - Valideringsskema for virtuelt genpanel DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA KC
Genomisk DNA Fovea hypoplasi. Mutationsscreening (genpanel EYEv2: SLC38A8), bæreranalyse, prænatal diagnostik “Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi, NGS panel" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA Usher syndrom. Mutationsscreening (genpanel Usher syndrom eller genpanel Hørenedsættelse HLv6: ABHD12, CDH23, CEP78, CIB2, CLRN1, DFNB31 (WHRN), ADGRV1 (GPR98), HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, inkl. analyse for intron mutationer USH2A c.7595-2144A>G, c.8845+628C>T, c.5573-834A>G, c.9959-4159A>G)), bæreranalyse, prænatal diagnostik “Usher syndrom" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA KC
Genomisk DNA Retinoblastom. Mutationsscreening (genpanel EYEv2: RB1), bæreranalyse, prænatal diagnostik “Retinoblastom" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA Retinoschisisis. Mutationsscreening (genpanel EYEv2: RS1), bæreranalyse, prænatal diagnostik “Retinoschisis" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA Septooptisk dysplasi. Mutationsscreening (genpanel EYEv2: HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1 eller genpanel SEPvp_tw_v1: HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, bæreranalyse, pranatal diagnostik “Septooptisk dysplasi"; SEPvp_tw_v1 - Valideringsskema for virtuelt genpanel DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA KC
Genomisk DNA Vitreoretinal dysplasi. Mutationsscreening genpanel EYEv2 eller genpanel VITvp_tw_v1: (ATOH7, BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CTC1, CTNNB1, EVR3, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2, RS1, TSPAN12, ZNF408), bæreranalyse, prænatal diagnostik “Vitreoretinal dysplasi"; "VITvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA Cataract. Mutationsscreening genpanel EYEv2 (ABHD12, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, ALX1, B3GLCT (B3GALTL), BCOR, BFSP1, BFSP2, CHMP4B, CLPB, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CRYAA, CTDP1, CYP27A1, EFNA5, EPG5, EPHA2, ERCC2, ERCC6, ERCC8, ESCO2, EYA1, FAM126A, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GJA1, GJA3, GJA8, HCCS, HMX1, HSF4, KCNJ13, LEMD2, LIM2, LRP2, LRP5, LSS, MAB21L2, MAF, MFRP, MIP, MIR184, NF2, NHS, OCRL, OTX2, P3H2, PEX7, PITX3, PXDN, RAB18, RAB3GAP2, RBP4, RECQL4, SIL1, SIPA1L3, SLC16A12, SLC33A1, SRD5A3, TDRD7, VCAN, VIM, WFS1, WRN, YAP1) eller genpanel CATvp_tw_v1 (ADAMTS10, AGK, AGPS, ALDH18A1, B3GLCT, BCOR, BFSP1, BFSP2, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CYP27A1, CYP51A1, DHCR7, DNMBP, DYRK1A, EED, EIF2B2, EPHA2, ERCC2, ERCC3, ERCC6,ERCC8, FAM126A, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GEMIN4, GJA3, GJA8, GLS, GNPAT, GTF2H5, HMX1, HSF4, HTRA2, INPP5K, JAM3, LCAT, LIM2, LONP1, LSS, MAF, MAN2B1, MIP, MIR184, MSMO1, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RIC1, SC5D, SIL1, SIPA1L3, SLC2A1, SLC33A1, SRD5A3, TDRD7, TFAP2A, VIM, VSX2, WFS1, WRN, XYLT2), bæreranalyse, prænatal diagnostik “Cataract"; "CATvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA Hørenedsættelse, non-syndromisk og syndromisk. Mutationsscreening (genpanel Hørenedsættelse HLv6: ABHD12, ACTG1, ADCY1, AIFM1, ATP1A2, ATP1A3, ATP2B2, ATP6V1B1, BCS1L, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23 inkl. non-coding exon 1, CEACAM16, CEP78, CEP250, CEP350, CHD7 inkl. non-coding exon 1, CIB2, CISD2, CLDN9, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL2A1, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COMP, CRYM, DCDC2, GSDME (DFNA5), DFNB31 (WHRN), PJVK (DFNB59), DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, ESRP1, EYA1 inkl. non-coding exon 1, EYA4, RIPOR2 (FAM65B), FDXR, FGF3, FGFR1, FGFR2, FOXI1, GAB1, GATA3, GIPC3, GJB2 inkl. non-coding exon 1, GJB3, GJB6, GRAP, ADGRV1 (GPR98), GPRASP2, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS1, HARS2, HGF, HOMER2, HSD17B4, IFNLR1, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOC653786, LOXHD1, LOXL3, LRTOMT, MARVELD2, MATN3, MCM2, MFN2, miR96, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A inkl. non-coding exon 1, MPZL2, NARS2, NLRP3, NOTCH2, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTOR, PDE1C, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PLS1, PNPT1, POLR1D, POLR1C, POU3F4, POU4F3, PRPS1, PTPRQ, PPIP5K2, RDX, REST, ROR1, S1PR2, SCD5, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC22A4 inkl. non-coding exon 1, SLC26A2, SLC26A4, SLC26A5, SLC44A4, SLC52A2, SLITRK6, SMPX, SNAI2, SOX10, STRC inkl. bp: chr15:43,910,920-43,919,883 (STRC 5’UTR), SYNE4, TBC1D24, TCOF1, TECTA, TECTB, TFAP2A, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRRAP, TRIOBP, TSPEAR, USH1C, USH1G, USH2A inkl. non-coding exon 1 og USH2A c.7595-2144A>G, USH2A c.8845+628C>T, USH2A c.5573-834A>G, USH2A c.9959-4159A>G , WBP2, WFS1 inkl. non-coding exon 1), bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik “Hørenedsættelse - NGS panel" DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
Genomisk DNA CHARGE syndrom. Mutationsscreening (genpanel Hørenedsættelse HLv6: CHD7), undersøgelse for specificeret mutation, prænatal diagnostik “CHARGE syndrom" DNA ekstraktion, PCR, Sanger sekventering, MLPA, NGS