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Reg. No. 1012 Akkreditering til medicinsk undersøgelse | | Side: 1
2
all
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| 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 |
|
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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 |
|
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Genomisk DNA
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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 |
|
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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 |
|
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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
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“Retinal dystrofi - NGS Genpanel"; "RDvp_tw_v1 - Valideringsskema for virtuelt genpanel"
|
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA |
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Genomisk DNA
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Pendred syndrom og DFNB4 (SLC26A4 genet). Mutationsscreening (enkeltgen undersøgelse: SLC26A4) (genpanel Hørenedsættelse HLv6: SLC26A4; KCNJ10; FOXI1; SIX1) bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik
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“Pendred syndrom og DFNB4”
|
DNA ekstraktion, MLPA, PCR, Sanger sekventering, NGS
|
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Genomisk DNA
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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
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“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
|
|
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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
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“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
|
|
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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 |
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Genomisk DNA |
Retinoschisisis.
Mutationsscreening (genpanel EYEv2: RS1), bæreranalyse, prænatal diagnostik |
“Retinoschisis"
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DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
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Genomisk DNA
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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
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“Septooptisk dysplasi"; SEPvp_tw_v1 - Valideringsskema for virtuelt genpanel
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DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
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KC |
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Genomisk DNA
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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
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“Vitreoretinal dysplasi"; "VITvp_tw_v1 - Valideringsskema for virtuelt genpanel"
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DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
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Genomisk DNA
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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
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“Cataract"; "CATvp_tw_v1 - Valideringsskema for virtuelt genpanel"
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DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
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Genomisk DNA
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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
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“Hørenedsættelse - NGS panel"
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DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
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Genomisk DNA
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CHARGE syndrom. Mutationsscreening (genpanel Hørenedsættelse HLv6: CHD7), undersøgelse for specificeret mutation, prænatal diagnostik
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“CHARGE syndrom"
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DNA ekstraktion, PCR, Sanger sekventering, MLPA, NGS
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