DANAK

Reg. No. 1012 Accreditation for medical examination

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IUPAC System Component Method Equipment/Principle Location
Genomic DNA
Genomisk DNA
Albinism, oculocutaneous or ocular. Mutation screening gene panel 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) or gene panel 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), carrier analysis, prenatal diagnosis
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"
“Albinisme, Oculocutan og oculær"; "OCAvp_tw_v1 - Valideringsskema for virtuelt genpanel"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
msMLPA and PCR: Genomic DNA. FISH: Metaphase chromosomes
msMLPA og PCR: Genomisk DNA. FISH: Metafasekromosomer
Angelman syndrome. Methylation analysis, testing for uniparental disomy (UPD), microdeletion analysis
Angelman syndrom. Methyleringsundersøgelse, undersøgelse for uniparental disomi (UPD), mikrodeletionsundersøgelse
"Angelman syndrom"
"Angelman syndrom"
DNA extraction, msMLPA, PCR, cell culturing, FISH
DNA ekstraktion, msMLPA, PCR, celledyrkning, FISH
KC
QF-PCR: Genomic DNA. FISH: Interphase chromosomes
QF-PCR: Genomisk DNA. FISH: Interfasekromosomer
Aneuploidies (postnatal or post abortion). QF-PCR, Interphase FISH
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"
"QF-PCR", "FISH analyse for aneuploidi af kromosom 13, 18, 21, X og Y på interfaseceller - Mikroskopi og svarafgivelse"
DNA extraction, QF-PCR, FISH
DNA ekstraktion, QF-PCR, FISH
KC
Genomic DNA
Genomisk DNA
Aniridia. Mutation screening (gene panel EYEv2: PAX6) (single gene analysis: PAX6), carrier analysis, prenatal diagnosis
Aniridi. Mutationsscreening (genpanel EYEv2: PAX6) (enkeltgenanalyse: PAX6), bæreranalyse, prænatal diagnostik
"Aniridi og WAGR (PAX6)"
"Aniridi og WAGR (PAX6)"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
ARX analysis. Mutation screening, carrier analysis, prenatal diagnosis
ARX undersøgelse. Mutationsscreening, bæreranalyse, prænatal diagnostik
"ARX"
"ARX"
DNA extraction, PCR, Sanger sequencing
DNA ekstraktion, PCR, Sanger sekventering
KC
Genomic DNA
Genomisk DNA
Beckwith-Wiedemann syndrome. Methylation analysis, testing for uniparental disomy (UPD), CDKN1C mutation screening
Beckwith-Wiedemann syndrom. Methyleringsundersøgelse, undersøgelse for uniparental disomi (UPD), CDKN1C mutationsscreening
"Beckwith-Wiedemann syndrom (msMLPA ME030, UPD11, CDKN1C)"
"Beckwith-Wiedemann syndrom (msMLPA ME030, UPD11, CDKN1C)"
DNA extraction, msMLPA, PCR, Sanger sequencing
DNA ekstraktion, msMLPA, PCR, Sanger sekventering
KC
Genomic DNA
Genomisk DNA
BH4 deficiency (DHPR defect/QDPR gene; GCH1 defect/GCH1 gene; PTS defect/PTS gene; SPR defect/SPR gene). Mutation screening, carrier analysis / testing for specified mutation, prenatal diagnosis
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)"
"Dihydropteridine reductase deficiency (QDPR)", "GTP cyclohydrolase I deficiency (GCH1)", "PTS 6-pyrovoyltetrahydropterine synthase deficiency (PTS)", "Sepiapterine reductase deficiency (SPR, SR)"
DNA extraction, PCR, Sanger sequencing, MLPA
DNA ekstraktion, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Deletion- / duplication analysis. qPCR. Postnatal diagnosis, carrier analysis, prenatal diagnosis
Deletions- / duplikationsundersøgelse. qPCR. Postnatal diagnostik, bærerundersøgelse, prænatal diagnostik
"Real-Time quantitative PCR (qPCR)"
"Real-Time quantitative PCR (qPCR)"
DNA extraction, qPCR
DNA ekstraktion, qPCR
KC
Genomic DNA
Genomisk DNA
Doparesponsive dystonia (TH defect/Segawa syndrom/TH gene; GCH1 defect/Segawa syndrome/GCH1 gene; SPR defect/SPR gene). Mutation screening, carrier analysis / testing for specified mutation, prenatal diagnosis
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)"
"Tyrosine hydroxylase deficiency (TH)", "GTP cyclohydrolase I deficiency (GCH1)", "Sepiapterine reductase deficiency (SPR, SR)"
DNA extraction, PCR, Sanger sequencing, MLPA
DNA ekstraktion, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Glaucoma, primary open angle (POAG), (GLC1A/MYOC gene; GLC1E/OPTN gene; GLC1G/WDR36 gene). Mutation screening, testing for specified mutation
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)"
"Glaucom, Primær Åbenvinklet (POAG/GLC1A/MYOC; POAG/GLC1E/OPTN; POAG/GLC1G/WDR36)"
DNA extraction, PCR, Sanger sequencing
DNA ekstraktion, PCR, Sanger sekventering
KC
Genomic DNA
Genomisk DNA
Glaucoma, primary congenital (PCG). Mutation screening (gene panel PCGvp_tw_v1: ADAMTS10, ADAMTS17, B3GLCT, COL4A1, CPAMD8, CYP1B1, FOXC1, FOXD3, FOXE3, LTBP2, MYOC, OPTN, PAX6, PITX2, PITX3, PXDN, TEK, WDR36), carrier analysis, prenatal diagnosis
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"
“Glaucom, Primær Congenit (PCG)”; "PCGvp_tw_v1 - Valideringsskema for virtuelt genpanel"
DNA extraction, PCR, Sanger sequencing
DNA ekstraktion, PCR, Sanger sekventering
KC
Metaphase chromosomes
Metafasekromosomer
Chromosome aberrations, constitutional. Karyotyping
Kromosomafvigelser, konstitutionelle. Karyotypering
” Kromosomanalyse for konstitutionelle kromosomafvigelser”
” Kromosomanalyse for konstitutionelle kromosomafvigelser”
Cell culturing, karyotypering
Celledyrkning, karyotypering
KC + BV
Metaphase chromosomes, interphase chromosomes
Metafasekromosomer, interfasekromosomer
Chromosome aberrations, submicroscopical, constitutional. FISH
Kromosomafvigelser submikroskopiske, konstitutionelle. FISH
"FISH analyse for konstitutionelle og erhvervede kromosomafvigelser - Mikroskopi og svarafgivelse"
"FISH analyse for konstitutionelle og erhvervede kromosomafvigelser - Mikroskopi og svarafgivelse"
Cell culturing, FISH
Celledyrkning, FISH
KC
Genomic DNA
Genomisk DNA
MECP2 duplication syndrome
MECP2 duplikationssyndrom
"Lubs X bunden mental retardering syndrom (MRXSL) /MECP2 duplikation syndrom"
"Lubs X bunden mental retardering syndrom (MRXSL) /MECP2 duplikation syndrom"
DNA extraction, MLPA
DNA ekstraktion, MLPA
KC
Genomic DNA
Genomisk DNA
Menkes disease and Occipital Horn Syndrome, DNA analyses (ATP7A gene). Mutation screening, carrier analysis, prenatal diagnosis
Menkes sygdom og Occipital Horn Syndrom, DNA analyser (ATP7A genet). Mutationsscreening, Bæreranalyse, Prænatal diagnostik
"Menkes sygdom (ATP7A)"
"Menkes sygdom (ATP7A)"
DNA extraction, PCR, Sanger sequencing, MLPA
DNA ekstraktion, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Microphthalmia / clinical anophthalmia. Mutation screening gene panel 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) or gene panel 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), carrier analysis, prenatal diagnosis
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"
"Mikroftalmi (øjenmalformation)"; "MOvp_tw_v1 - Valideringsskema for virtuelt genpanel"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Mole, hydatidiform, determination of ploidy
Mola hydatidosa, ploidibestemmelse
"Mola hydatidosa - Ploidibestemmelse"
"Mola hydatidosa - Ploidibestemmelse"
DNA extraction, QF-PCR, msMLPA
DNA ekstraktion, QF-PCR, msMLPA
KC
Genomic DNA
Genomisk DNA
Mutation analysis, known mutation(s), customized, carrier analysis/testing for specified mutation(s), prenatal diagnosis
Mutationsundersøgelse, kendt(e) mutation(er), customized, bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik
"Customised Sekvens analyse"
"Customised Sekvens analyse"
DNA extraction, PCR, Sanger sequencing
DNA ekstraktion, PCR, Sanger sekventering
KC
Genomic DNA
Genomisk DNA
Optic atrophy. Mutation screening (gene panel EYEv2: OPA1, OPA3 or gene panel 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 ), testing for specificied mutation, prenatal diagnosis
"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
"Opticus Atrofi"; OPNvp_tw_v1 - Valideringsskema for virtuelt genpanel
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Phenylketonuria (PKU), DNA analyses (PAH gene). Mutation screening, carrier analysis, prenatal diagnosis
Phenylketonuri (PKU), DNA analyser (PAH genet). Mutationsscreening, bæreranalyse, prænatal diagnostik
"Phenylketonuria, PKU (PAH)"
"Phenylketonuria, PKU (PAH)"
DNA extraction, PCR, Sanger sequencing, MLPA
DNA ekstraktion, PCR, Sanger sekventering, MLPA
KC
msMLPA and PCR: Genomic DNA. FISH: Metaphase chromosomes
MLPA: Genomisk DNA. FISH: Metafasekromosomer
Prader-Willi syndrome. Methylation analysis, testing for uniparental disomy (UPD), microdeletion analysis
Prader-Willi syndrom. Methyleringsundersøgelse, undersøgelse for uniparental disomi (UPD), mikrodeletionsundersøgelse
Prader-Willi syndrom
Prader-Willi syndrom
DNA extraction, msMLPA, PCR, cell culturing, FISH
DNA ekstraktion, msMLPA, PCR, celledyrkning, FISH
KC
Genomic DNA
Genomisk DNA
Silver-Russell syndrome. Methylation analysis, testing for uniparental disomy (UPD)
Silver-Russell syndrom. Methyleringsundersøgelse, undersøgelse for uniparental disomi (UPD)
"Silver-Russell syndrom"
"Silver-Russell syndrom"
DNA extraction, msMLPA, PCR
DNA ekstraktion, msMLPA, PCR
KC
Genomic DNA
Genomisk DNA
Tuberous sclerosis (TSC2 gene). Mutation screening, testing for specified mutation, prenatal diagnosis
Tuberøs sclerose (TSC2 genet). Mutationsscreening, undersøgelse for specificeret mutation, prænatal diagnostik
"Tuberøs Sclerose (TSC2)"
"Tuberøs Sclerose (TSC2)"
DNA extraction, PCR, Sanger sequencing
DNA ekstraktion, PCR, Sanger sekventering
KC
Genomic DNA
Genomisk DNA
Uniparental disomy (UPD)
Uniparental disomi (UPD)
"Uniparental disomi"
"Uniparental disomi"
DNA extraction, PCR
DNA ekstraktion, PCR
KC
Genomic DNA
Genomisk DNA
WAGR. Mikrodeletion analysis
WAGR. Mikrodeletionsundersøgelse
"Aniridi og WAGR (PAX6)"
"Aniridi og WAGR (PAX6)"
DNA extraction, MLPA
DNA ekstraktion, MLPA
KC
Genomic DNA
Genomisk DNA
Wilson disease (ATP7B gene). Mutation screening, carrier analysis, prenatal diagnosis
Wilson sygdom (ATP7B genet). Mutationsscreening, bæreranalyse, prænatal diagnostik
"Wilson sygdom (ATP7B)"
"Wilson sygdom (ATP7B)"
DNA extraction, PCR, Sanger sequencing, MLPA
DNA ekstraktion, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
X-inactivation, skewed
X-inaktivering, skæv
"X-inaktivering"
"X-inaktivering"
PCR
PCR
KC
Bloodsampling, veinpuncture
Blodprøvetagning, venepunktur
"Blodprøvetagning på Kennedy Centret"
"Blodprøvetagning på Kennedy Centret"
KC
Sampling, skin biopsy
Prøvetagning, hudbiopsi
"Prøvetagning af hudbiopsi på Kennedy Centret"
"Prøvetagning af hudbiopsi på Kennedy Centret"
KC
Genomic DNA
Genomisk DNA
"Axenfeld-Rieger syndrome. Mutation screening (gene panel EYEv2: B3GALTL; CYP1B1; FOXC1; FOXE3; PAX6; PITX2; PITX3 or gene panel ARSvp_tw_v1: B3GLCT, COL4A1, CPAMD8, CYP1B1, FOXC1, FOXE3, GJA8, PAX6, PITX2, PITX3, PXDN) (single gene analysis: PITX2; FOXC1), testing for specified mutation, prenatal diagnosis"
"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
“Axenfeld-Rieger syndrome og Peters anomali”; ARSvp_tw_v1 - Valideringsskema for virtuelt genpanel
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Torsion dystonia, early-onset (DYT1/TOR1A genet). Mutation screening, testing for specified mutation, prenatal diagnosis
Dystoni, torsions-, early onset (DYT1/TOR1A genet). Mutationsscreening, undersøgelse for specificeret mutation, prænatal diagnostik
“Early-Onset Torsion Dystonia; DYT1 (TOR1A)”
“Early-Onset Torsion Dystonia; DYT1 (TOR1A)”
DNA extraction, PCR, Sanger sequencing
DNA ekstraktion, PCR, Sanger sekventering
KC
Genomic DNA
Genomisk DNA
Torsion dystonia, adult-onset, mixed type (DYT6/THAP1 gene). Mutation screening, testing for specified mutation, prenatal diagnosis
Dystoni, torsions-, adult-onset, mixed type (DYT6/THAP1 genet). Mutationsscreening, undersøgelse for specificeret mutation, prænatal diagnostik
“Torsion Dystonia, Adult-onset, Mixed type; DYT6 (THAP1)”
“Torsion Dystonia, Adult-onset, Mixed type; DYT6 (THAP1)”
DNA extraction, PCR, Sanger sequencing
DNA ekstraktion, PCR, Sanger sekventering
KC
Genomic DNA
Genomisk DNA
Cornelia de Lange syndrome. Mutation screening gene panel (NIPBL, RAD21, SMC1A, SMC3, HDAC8, BRD4, EP300, ANKRD11, AFF4, NAA10, TAF6, MAU2, WAPL, PDS5A, STAG1, STAG2), carrier analysis, prenatal diagnosis
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"
“Cornelia de Lange syndrom - NGS gen panel"; "CdLSvp_tw_v1 - Valideringsskema for virtuelt genpanel"
DNA extraction, NGS, MLPA, PCR, Sanger sequencing
DNA ekstraktion, NGS, MLPA, PCR, Sanger sekventering
KC
Genomic DNA
Genomisk DNA
"Peters anomaly. Mutation screening (gene panel EYEv2: B3GALTL; CYP1B1; FOXC1; FOXE3; PAX6; PITX2; PITX3 or gene panel ARSvp_tw_v1: B3GLCT, COL4A1, CPAMD8, CYP1B1, FOXC1, FOXE3, GJA8, PAX6, PITX2, PITX3, PXDN), carrier analysis/testing for specified mutation, prenatal diagnosis"
"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
“Axenfeld-Rieger syndrome og Peters anomali”; ARSvp_tw_v1 - Valideringsskema for virtuelt genpanel
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Anterior segment defects. Mutation screening (gene panel EYEv2: B3GALTL; COL4A1; CYP1B1; EYA1; FOXC1; FOXE3; KERA; LAMB2; PAX2; PAX6; PITX2; PITX3; PORCN or gene panel ASDvp_tw_v1: B3GALTL, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3, PORCN), carrier testing/testing for specified mutation, prenatal diagnosis
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
“Forkammer defekter (øjen) (Anterior segment defects)”; ASDvp_tw_v1 - Valideringsskema for virtuelt genpanel
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
DFNB1. Mutation screening (single gene analysis: GJB2 genet; del(GJB6-D13S1830); del(GJB6-D13S1854)) (gene panel Hearing loss HLv7: GJB2), testing for specified mutation, prenatal diagnosis
DFNB1. Mutationsscreening (enkeltgen undersøgelse: GJB2 genet; del(GJB6-D13S1830); del(GJB6-D13S1854)) (genpanel Hørenedsættelse HLv7: GJB2), undersøgelse for specificeret mutation, prænatal diagnostik
“DFNB1”
“DFNB1”
DNA extraction, PCR, Sanger sequencing, NGS
DNA ekstraktion, PCR, Sanger sekventering, NGS
KC
Genomic DNA
Genomisk DNA
Retinal dystrophy. Mutation screening gene panel 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) or gene panel RDvp_tw_v2 (ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, AGBL5, AHI1, AIPL1, AIRE, ALMS1, ARHGEF18, ARL2BP, ARL6, ATF6, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21orf2, C2orf71, C8orf37, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP78, CERKL, CFH, CHM, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL18A1, COL4A1, CRB1, CRX, CSPP1, CTNNB1, CTSD, CWC27, CYP4V2, DHDDS, DRAM2, EFEMP1, ELOVL4, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FZD4, GNAT1,GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B,GUCY2D, HARS, HCCS,HGSNAT, HMX1, IDH3A, IDH3B, IFT140, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIAA1549, KIF11, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MERTK, MFRP, MFSD8, MKKS, MKS1, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OPN1MW, OTX2, PANK2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PEX1, PEX2, PEX7, PHYH, PLA2G5, POC1B, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGS9, RHO, RLBP1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SLC24A1, SLC38A8, , NRNP200, SPATA7, SRD5A3, TIMM8A, TIMP3, TMEM237, TOPORS, TPP1, TRIM32, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WHRN, ZNF408, ZNF423, ABCC6, ADIPOR1, AFG3L2, AHR, ARL3, ARSG, ASRGL1, ATXN7, C12orf65, CCT2, CEP19, CEP250, CLCC1, CLUAP1, CTNNA1, CYP2R1, DHX38, DMD, ELOVL1, ESPN, EXOSC2, GNB3, HK1, IFT172, IFT27, IFT81, JAG1, LAMA1, MAPKAPK3, MIR204, MVK, NBAS, NEUROD1, OPN1SW, PAX2, PDE6H, PGK1, PLK4, PNPLA6, POC5, POMGNT1, PRDM13, RDH11, RGR, RTN4IP1, SAMD11, SEMA4A, SLC25A46, SLC37A3, SPP2, TREX1, TRNT1, TTPA, TUBGCP4, TUBGCP6, BBIP1, FRMD7, PDZD7, PITPNM3, RGS9BP, ROM1, SLC7A14, TEAD1, ZNF513 BBIP1, FRMD7, PDZD7, PITPNM3, RGS9BP, ROM1, SLC7A14, TEAD1, ZNF513), carrier testing/testing for specified mutation, prenatal diagnosis
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_v2 (ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, AGBL5, AHI1, AIPL1, AIRE, ALMS1, ARHGEF18, ARL2BP, ARL6, ATF6, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21orf2, C2orf71, C8orf37, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP78, CERKL, CFH, CHM, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL18A1, COL4A1, CRB1, CRX, CSPP1, CTNNB1, CTSD, CWC27, CYP4V2, DHDDS, DRAM2, EFEMP1, ELOVL4, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FZD4, GNAT1,GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B,GUCY2D, HARS, HCCS,HGSNAT, HMX1, IDH3A, IDH3B, IFT140, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIAA1549, KIF11, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MERTK, MFRP, MFSD8, MKKS, MKS1, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OPN1MW, OTX2, PANK2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PEX1, PEX2, PEX7, PHYH, PLA2G5, POC1B, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGS9, RHO, RLBP1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SLC24A1, SLC38A8, , NRNP200, SPATA7, SRD5A3, TIMM8A, TIMP3, TMEM237, TOPORS, TPP1, TRIM32, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WHRN, ZNF408, ZNF423, ABCC6, ADIPOR1, AFG3L2, AHR, ARL3, ARSG, ASRGL1, ATXN7, C12orf65, CCT2, CEP19, CEP250, CLCC1, CLUAP1, CTNNA1, CYP2R1, DHX38, DMD, ELOVL1, ESPN, EXOSC2, GNB3, HK1, IFT172, IFT27, IFT81, JAG1, LAMA1, MAPKAPK3, MIR204, MVK, NBAS, NEUROD1, OPN1SW, PAX2, PDE6H, PGK1, PLK4, PNPLA6, POC5, POMGNT1, PRDM13, RDH11, RGR, RTN4IP1, SAMD11, SEMA4A, SLC25A46, SLC37A3, SPP2, TREX1, TRNT1, TTPA, TUBGCP4, TUBGCP6, BBIP1, FRMD7, PDZD7, PITPNM3, RGS9BP, ROM1, SLC7A14, TEAD1, ZNF513 BBIP1, FRMD7, PDZD7, PITPNM3, RGS9BP, ROM1, SLC7A14, TEAD1, ZNF513), bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik
“Retinal dystrofi - NGS Genpanel"; "RDvp_tw_v2 - Valideringsskema for virtuelt genpanel"
“Retinal dystrofi - NGS Genpanel"; "RDvp_tw_v2 - Valideringsskema for virtuelt genpanel"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Pendred syndrom and DFNB4 (SLC26A4). Mutation screening (single gene analysis: SLC26A4) (gene panel Hearing loss HLv7: SLC26A4; KCNJ10; FOXI1; SIX1), carrier analysis/testing for specified mutation, prenatal diagnosis
Pendred syndrom og DFNB4 (SLC26A4 genet). Mutationsscreening (enkeltgen undersøgelse: SLC26A4) (genpanel Hørenedsættelse HLv7: SLC26A4; KCNJ10; FOXI1; SIX1) bæreranalyse/undersøgelse for specificeret mutation, prænatal diagnostik
“Pendred syndrom og DFNB4”
“Pendred syndrom og DFNB4”
DNA extraction, MLPA, PCR, Sanger sequencing, NGS
DNA ekstraktion, MLPA, PCR, Sanger sekventering, NGS
KC
Genomic DNA
Genomisk DNA
Hermansky-Pudlak syndrom. Mutation screening (gene panel EYEv2: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6 or gene panel 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), carrier analysis, prenatal diagnosis
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
“Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi"; OCAvp_tw_v1 - Valideringsskema for virtuelt genpanel
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Griscelli syndrome. Mutation screening (gene panel EYEv2: MLPH, MYO5A, RAB27A), carrier analysis, prenatal diagnosis
Griscelli syndrom. Mutationsscreening (genpanel EYEv2: MLPH, MYO5A, RAB27A), bæreranalyse, prænatal diagnostik
“Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi, NGS panel"
“Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi, NGS panel"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Chediak-Higashi syndrome. Mutation screening (gene panel EYEv2: LYST or gene panel 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), carrier analysis, prenatal diagnosis
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
“Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi, NGS panel"; OCAvp_tw_v1 - Valideringsskema for virtuelt genpanel
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Fovea hypoplasia. Mutation screening (gene panel EYEv2: SLC38A8), carrier analysis, prenatal diagnosis
Fovea hypoplasi. Mutationsscreening (genpanel EYEv2: SLC38A8), bæreranalyse, prænatal diagnostik
“Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi, NGS panel"
“Hermansky-Pudlak syndrom, Griscelli syndrom, Chediak-Higashi syndrom og fovea hypoplasi, NGS panel"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Usher syndrome. Mutation screening (gene panel Usher syndrome or gene panel Hearing Loss HLv7: ABHD12, ADGRV1 (GPR98), ARSG, CDH23, CEP78, CIB2, CLRN1, WHRN (DFNB31), HARS1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A (inkl. analyse for USH2A c.7595-2144A>G, c.8845+628C>T, c.5573-834A>G, c.9959-4159A>G)), carrier analysis, prenatal diagnosis
Usher syndrom. Mutationsscreening (genpanel Usher syndrom eller genpanel Hørenedsættelse HLv7: ABHD12, ADGRV1 (GPR98), ARSG, CDH23, CEP78, CIB2, CLRN1, WHRN (DFNB31), HARS1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A (inkl. analyse for USH2A c.7595-2144A>G, c.8845+628C>T, c.5573-834A>G, c.9959-4159A>G)), bæreranalyse, prænatal diagnostik
“Usher syndrom"
“Usher syndrom"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Retinoblastoma. Mutation screening (gene panel EYEv2: RB1), carrier analysis, prenatal diagnosis
Retinoblastom. Mutationsscreening (genpanel EYEv2: RB1), bæreranalyse, prænatal diagnostik
“Retinoblastom"
“Retinoblastom"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Retinoschisis.. Mutation screening (gene panel EYEv2: RS1), carrier analysis, prenatal diagnosis
Retinoschisisis. Mutationsscreening (genpanel EYEv2: RS1), bæreranalyse, prænatal diagnostik
“Retinoschisis"
“Retinoschisis"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Septooptic dysplasia. Mutation screening (gene panel EYEv2: HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1 or gene panel SEPvp_tw_v1: HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1), carrier analysis, prenatal diagnosis
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
“Septooptisk dysplasi"; SEPvp_tw_v1 - Valideringsskema for virtuelt genpanel
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Vitreoretinal dysplasia. Mutation screening (gene panel EYEv2 or gene panel 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), carrier analysis, prenatal diagnosis
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"
“Vitreoretinal dysplasi"; "VITvp_tw_v1 - Valideringsskema for virtuelt genpanel"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Cataract. Mutation screening gene panel 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) or gene panel 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), carrier analysis, prenatal diagnosis
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"
“Cataract"; "CATvp_tw_v1 - Valideringsskema for virtuelt genpanel"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
Hearing loss, non-syndromic and syndromic. Mutation screening (gene panel Hearing loss HLv7: ABHD12, ACTG1, ADCY1, ADAMTSL4, ADGRV1 (GPR98), AIFM1, ARSG, 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, CLRN2, COCH, COL2A1, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COMP, CRYM, DCDC2, GSDME (DFNA5), WHRN (DFNB31), PJVK (DFNB59), DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, EFTUD2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, ESRP1, EYA1 inkl. non-coding exon 1, EYA4, HMX1, RIPOR2 (FAM65B), FDXR, FGF3, FGFR1, FGFR2, FOXI1, GAB1, GATA3, GIPC3, GJB2 inkl. non-coding exon 1, GJB3, GJB6, GRAP, 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, MAN2B1, MAP1B, 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, POLR1B, POLR1D, POLR1C, POU3F4, POU4F3, PRPS1, PTPRQ, PPIP5K2, RDX, REST, ROR1, S1PR2, SCD5, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A2, 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), carrier analysis/testing for specified mutation, prenatal diagnosis
Hørenedsættelse, non-syndromisk og syndromisk. Mutationsscreening (genpanel Hørenedsættelse HLv7: ABHD12, ACTG1, ADCY1, ADAMTSL4, ADGRV1 (GPR98), AIFM1, ARSG, 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, CLRN2, COCH, COL2A1, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COMP, CRYM, DCDC2, GSDME (DFNA5), WHRN (DFNB31), PJVK (DFNB59), DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, EFTUD2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, ESRP1, EYA1 inkl. non-coding exon 1, EYA4, HMX1, RIPOR2 (FAM65B), FDXR, FGF3, FGFR1, FGFR2, FOXI1, GAB1, GATA3, GIPC3, GJB2 inkl. non-coding exon 1, GJB3, GJB6, GRAP, 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, MAN2B1, MAP1B, 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, POLR1B, POLR1D, POLR1C, POU3F4, POU4F3, PRPS1, PTPRQ, PPIP5K2, RDX, REST, ROR1, S1PR2, SCD5, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A2, 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"
“Hørenedsættelse - NGS panel"
DNA extraction, NGS, PCR, Sanger sequencing, MLPA
DNA ekstraktion, NGS, PCR, Sanger sekventering, MLPA
KC
Genomic DNA
Genomisk DNA
CHARGE syndrome. Mutation screening (gene panel Hearing loss HLv7: CHD7), testing for specified mutation, prenatal diagnosis
CHARGE syndrom. Mutationsscreening (genpanel Hørenedsættelse HLv7: CHD7), undersøgelse for specificeret mutation, prænatal diagnostik
“CHARGE syndrom"
“CHARGE syndrom"
DNA extraction, PCR, Sanger sequencing, MLPA, NGS
DNA ekstraktion, PCR, Sanger sekventering, MLPA, NGS
KC