DANAK

Reg. No. 1012 Accreditation for medical examination

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IUPAC System Component Method Equipment/Principle Location
Genomic 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 og oculær"; "OCAvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA extraction, NGS, PCR, Sanger sequencing, MLPA
msMLPA and PCR: Genomic DNA. FISH: Metaphase chromosomes Angelman syndrome. Methylation analysis, testing for uniparental disomy (UPD), microdeletion analysis "Angelman syndrom" DNA extraction, msMLPA, PCR, cell culturing, FISH
QF-PCR: Genomic DNA. FISH: Interphase chromosomes Aneuploidies, rapid diagnosis (postnatal or post abortion). QF-PCR, Interphase FISH "QF-PCR", "FISH analyse for aneuploidi af kromosom 13, 18, 21, X og Y på interfaseceller - Mikroskopi og svarafgivelse" DNA extraction, QF-PCR, FISH
Genomic DNA Aniridia. Mutation screening (gene panel EYEv2: PAX6) (single gene analysis: PAX6), carrier analysis, prenatal diagnosis "Aniridi og WAGR (PAX6)" DNA extraction, NGS, PCR, Sanger sequencing, MLPA
Genomic DNA ARX analysis. Mutation screening, carrier analysis, prenatal diagnosis "ARX" DNA extraction, PCR, Sanger sequencing
Genomic DNA Beckwith-Wiedemann syndrome. Methylation analysis, testing for uniparental disomy (UPD), CDKN1C mutation screening "Beckwith-Wiedemann syndrom (msMLPA ME030, UPD11, CDKN1C)" DNA extraction, msMLPA, PCR, Sanger sequencing
Genomic 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 "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
Genomic DNA Deletion- / duplication analysis. qPCR. Postnatal diagnosis, carrier analysis, prenatal diagnosis "Real-Time quantitative PCR (qPCR)" DNA extraction, qPCR
Genomic 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 "Tyrosine hydroxylase deficiency (TH)", "GTP cyclohydrolase I deficiency (GCH1)", "Sepiapterine reductase deficiency (SPR, SR)" DNA extraction, PCR, Sanger sequencing, MLPA
Genomic DNA Fragile X syndrome. Postnatal diagnosis, carrier analysis, prenatal diagnosis "Fragilt X syndrom" DNA extraction, PCR, mPCR
Genomic DNA Glaucoma, primary open angle (POAG), (GLC1A/MYOC gene; GLC1E/OPTN gene; GLC1G/WDR36 gene). Mutation screening, testing for specified mutation "Glaucom, Primær Åbenvinklet (POAG/GLC1A/MYOC; POAG/GLC1E/OPTN; POAG/GLC1G/WDR36)" DNA extraction, PCR, Sanger sequencing
Genomic DNA Glaucoma, primary congenital (PCG) (CYP1B1 genet). Mutation screening, carrier analysis, prenatal diagnosis "Glaucom, Primær Congenit (PCG/CYP1B1)" DNA extraction, PCR, Sanger sequencing
Metaphase chromosomes Chromosome aberrations, constitutional. Karyotyping ”Kromosomanalyse af postnatale prøver ved hjælp af G-bånd” Cell culturing, karyotypering
Metaphase chromosomes, interphase chromosomes Chromosome aberrations, submicroscopical, constitutional. FISH "FISH analyse for konstitutionelle og erhvervede kromosomafvigelser - Mikroskopi og svarafgivelse" Cell culturing, FISH
MLPA: Genomic DNA. FISH: Metaphase chromosomes, interphase chromosomes Chromosome imbalances, subtelomeric, constitutional. Subtelomeric MLPA, subtelomeric FISH "Subtelomer MLPA", "FISH analyse for konstitutionelle eller erhvervede kromosomforandringer - Mikroskopi og svarafgivelse" DNA extraction, MLPA, cell culturing, FISH
Genomic DNA MECP2 duplication syndrome "Lubs X bunden mental retardering syndrom (MRXSL) /MECP2 duplikation syndrom" DNA extraction, MLPA
Genomic DNA Menkes disease and Occipital Horn Syndrome, DNA analyses (ATP7A gene). Mutation screening, carrier analysis, prenatal diagnosis "Menkes sygdom (ATP7A)" DNA extraction, PCR, Sanger sequencing, MLPA
Genomic DNA Microdeletion analysis, 1p36 deletion syndrome "1p36 deletionssyndrom"; DNA extraction, MLPA
Genomic DNA Microdeletion analysis, Alagille syndrome "Alagille syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes)
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, Angelman syndrome "Angelman syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes), cell culturing, FISH. See in addition "Angelman syndrome"
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, Cri du chat syndrome "Cri du chat syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes), cell culturing, FISH.
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, DiGeorge syndrome "DiGeorge syndrom" DNA extraction, MLPA, cell culturing, FISH
Genomic DNA Microdeletion analysis, Langer-Giedion syndrome, (Trichorhinophalangeal syndrome type II) "Langer-Giedion syndrom, (Trichorhinophalangealt syndrom type 2)" DNA extraction, MLPA (kit with probes for multiple syndromes)
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, Miller-Dieker syndrome "Miller-Dieker syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes), cell culturing, FISH.
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, Prader-Willi syndrome "Prader-Willi syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes), cell culturing, FISH. See in addition "Prader-Willi syndrome"
Genomic DNA Microdeletion analysis, Rubinstein-Taybi syndrome "Rubinstein-Taybi syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes)
Genomic DNA Microdeletion analysis, Saethre-Chotzen syndrome "Saethre-Chotzen syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes)
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, Smith-Magenis syndrome "Smith-Magenis syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes), cell culturing, FISH.
Genomic DNA Microdeletion analysis, Sotos syndrome "Sotos syndrome" DNA extraction, MLPA (kit with probes for multiple syndromes)
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, Velocardiofacial syndrome "Velocardiofacialt syndrom" DNA extraction, MLPA, cell culturing, FISH
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, Williams syndrome "Williams syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes), cell culturing, FISH.
MLPA: Genomic DNA. FISH: Metaphase chromosomes Microdeletion analysis, Wolf syndrome (Wolf-Hirschhorn syndrome) "Wolf syndrom" DNA extraction, MLPA (kit with probes for multiple syndromes), cell culturing, FISH
Genomic DNA Microdeletion-/duplication syndromes, screening "Syndrom MLPA" DNA extraction, MLPA (kit with prober for multiple syndromes)
Genomic 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 "Mikroftalmi (øjenmalformation)"; "MOvp_tw_v1 - Valideringsskema for virtuelt genpanel" DNA extraction, NGS, PCR, Sanger sequencing, MLPA
Genomic DNA Mole, hydatidiform, determination of ploidy "Mola hydatidosa - Ploidibestemmelse" DNA extraction, QF-PCR
Genomic DNA Mutation analysis, known mutation(s), customized, carrier analysis/testing for specified mutation(s), prenatal diagnosis "Customised Sekvens analyse" DNA extraction, PCR, Sanger sequencing
Genomic DNA Optic atrophy. Mutation screening (gene panel EYEv2: OPA1, OPA3), testing for specificied mutation, prenatal diagnosis "Opticus Atrofi" DNA extraction, NGS, PCR, Sanger sequencing, MLPA
Genomic DNA Phenylketonuria (PKU), DNA analyses (PAH gene). Mutation screening, carrier analysis, prenatal diagnosis "Phenylketonuria, PKU (PAH)" DNA extraction, PCR, Sanger sequencing, MLPA
msMLPA and PCR: Genomic DNA. FISH: Metaphase chromosomes Prader-Willi syndrome. Methylation analysis, testing for uniparental disomy (UPD), microdeletion analysis Prader-Willi syndrom DNA extraction, msMLPA, PCR, cell culturing, FISH
Genomic DNA Silver-Russell syndrome. Methylation analysis, testing for uniparental disomy (UPD) "Silver-Russell syndrom" DNA extraction, msMLPA, PCR
Genomic DNA Tuberous sclerosis (TSC2 gene). Mutation screening, testing for specified mutation, prenatal diagnosis "Tuberøs Sclerose (TSC2)" DNA extraction, PCR, Sanger sequencing
Genomic DNA Uniparental disomy (UPD) "Uniparental disomi" DNA extraction, PCR
Genomic DNA WAGR. Mikrodeletion analysis "Aniridi og WAGR (PAX6)" DNA extraction, MLPA
Genomic DNA Wilson disease (ATP7B gene). Mutation screening, carrier analysis, prenatal diagnosis "Wilson sygdom (ATP7B)" DNA extraction, PCR, Sanger sequencing, MLPA
Genomic DNA X-linked mental retardation, screening Screening for "non-syndromic" X-bunden mental retardering (MRX) DNA extraction, MLPA
Genomic DNA X-inactivation, skewed "X-inaktivering" PCR
Bloodsampling, veinpuncture "Blodprøvetagning på Kennedy Centret"
Sampling, skin biopsy "Prøvetagning af hudbiopsi på Kennedy Centret"
Genomic DNA Axenfeld-Rieger syndrome. Mutation screening (gene panel EYEv2: B3GALTL; CYP1B1; FOXC1; FOXE3; PAX6; PITX2; PITX3) (single gene analysis: PITX2; FOXC1), testing for specified mutation, prenatal diagnosis “Axenfeld-Rieger syndrome og Peters anomali” DNA extraction, NGS, PCR, Sanger sequencing, MLPA
Genomic DNA Torsion dystonia, early-onset (DYT1/TOR1A genet). Mutation screening, testing for specified mutation, prenatal diagnosis “Early-Onset Torsion Dystonia; DYT1 (TOR1A)” DNA extraction, PCR, Sanger sequencing