DANAK

Reg. No. 1021 Accreditation for medical examination

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IUPAC System Component Method Equipment/Principle Location
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
FGFR1 relateret kraniosynostose, Pfeiffer syndrom; FGFR1-gen (exon 5), FGFR2-gen (8, 10); sekv.var.
FGFR1 relateret kraniosynostose, Pfeiffer syndrom; FGFR1-gen (exon 5), FGFR2-gen (8, 10); sekv.var.
PFEIFFER
PFEIFFER
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Silver-Russell syndrom. Mikrodeletion 11p15, uniparental disomi (maternel) kromosom 7, abnorm methylering i 11p15
Silver-Russell syndrom. Mikrodeletion 11p15, uniparental disomi (maternel) kromosom 7, abnorm methylering i 11p15
SRS, UPD7
SRS, UPD7
DNA extraction, MS-MLPA PCR
DNA ekstraktion, MS-MLPA, PCR
NPU19058 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Duchennes muskeldystrofi. DMD-gen; sekv.var.
Duchennes muskeldystrofi. DMD-gen; sekv.var.
DMD
DMD
DNA extraction, MLPA
DNA ekstraktion, MLPA
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Achondroplasi; FGFR3-gen (exon 9); sekv.var
Achondroplasi; FGFR3-gen (exon 9); sekv.var
Achondroplasi
Achondroplasi
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
C9orf72-gene; sekv.var
C9orf72-gen; sekv.var
C9orf72
C9orf72
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Dystrophia myotonica type 2. CNBP-gen; sekv.var
Dystrophia myotonica type 2. CNBP-gen; sekv.var
DM2
DM2
DNA extraction PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Hereditær trykbetinget neuropati. Mikrodeletion i 17p11.2 og PMP22-gen sekv.var.
Hereditær trykbetinget neuropati. Mikrodeletion i 17p11.2 og PMP22-gen sekv.var.
HNPP
HNPP
DNA extraction, MLPA, PCR, DNA sequencing
DNA ekstraktion, MLPA, PCR, DNA sekventering
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
22q11 mikrodeletionssyndrom. Mikrodeletion/duplikation i 22q11
22q11 mikrodeletionssyndrom. Mikrodeletion/duplikation i 22q11
22q11
22q11
DNA extraction, MLPA
DNA ekstraktion, MLPA
NPU19079 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Fragilt X syndrom. FMR1-gen; sekv.var
Fragilt X syndrom. FMR1-gen; sekv.var
FragX inhouse, Asuragen
FragX inhouse, Asuragen
DNA extraction, PCR, PCR/RP-PCR (Asuragen)
DNA ekstraktion, PCR, PCR/RP-PCR (Asuragen)
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
GJB2/GJB6-related non-syndromic deafness. GJB2, GJB6.
GJB2/GJB6-relateret non-syndromisk hørenedsættelse. GJB2, GJB6.
GJB2, GJB6, MLPA
GJB2, GJB6, MLPA
DNA extraction, MLPA, PCR
DNA ekstraktion, MLPA, PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Thanatophor dysplasi type 1 og 2, FGFR3-gen (exon 7, 9, 14 og 18), sekv.var
Thanatophor dysplasi type 1 og 2, FGFR3-gen (exon 7, 9, 14 og 18), sekv.var
Thanatophor
Thanatophor
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Williams syndrom. Mikrodeletion i 7q11.
Williams syndrom. Mikrodeletion i 7q11.
William
William
DNA extraction, MLPA
DNA ekstraktion, MLPA
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Prader-Willi syndrom. Mikrodeletion i 15q11-q13
Prader-Willi syndrom. Mikrodeletion i 15q11-q13
PWS, UPD15
PWS, UPD15
DNA extraction, MS-MLPA, PCR
DNA ekstraktion, MS-MLPA, PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
FGFR2 relateret kraniosynostose, Apert syndrom; FGFR2-gen (exon 7); sekv.var
FGFR2 relateret kraniosynostose, Apert syndrom; FGFR2-gen (exon 7); sekv.var
APERT
APERT
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
NPU48607 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Limb-Girdle muskeldystrofi 2I. FKRP-gen; sekv.var
Limb-Girdle muskeldystrofi 2I. FKRP-gen; sekv.var
FKRP
FKRP
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Angelman syndrom. Mikrodeletion, uniparental disomi og abnorm methylering i 15q11-q13
Angelman syndrom. Mikrodeletion, uniparental disomi og abnorm methylering i 15q11-q13
AS, UPD
AS, UPD
DNA extraction, , MS-MLPA, PCR
DNA ekstraktion, MS-MLPA, PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Charcot-Marie-Tooths disease type 1B og 2A. MFN2, MPZ
Charcot-Marie-Tooths sygdom type 1B og 2A. MFN2, MPZ
CMT2A, CMT1B, MLPA
CMT2A, CMT1B, MLPA
DNA extraction, MLPA, PCR
DNA ekstraktion, MLPA, PCR
NPU19010 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Kennedy sygdom. AR-gen; sekv.var.
Kennedy sygdom. AR-gen; sekv.var.
XSMA
XSMA
DNA extraction, PCR
DNA ekstraktion, PCR
NPU19014 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Steroid sulfatase mangel. STS-gen; sekv.var
Steroid sulfatase mangel. STS-gen; sekv.var
STS
STS
DNA extraction, MLPA
DNA ekstraktion, MLPA
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Spinocerebellar ataksi type 1. ATXN1-gen; sekv.var
Spinocerebellar ataksi type 1. ATXN1-gen; sekv.var
SCA1
SCA1
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
NPU19170 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Alfa1-antitrypsinmangel. SERPINA1-gen; sekv.var
Alfa1-antitrypsinmangel. SERPINA1-gen; sekv.var
AAT
AAT
DNA extraction, ARMS, PCR, agarose gel electroforesis (GenProbe)
DNA ekstraktion, ARMS, PCR, agarose gelelektroforese (GenProbe)
NPU19204 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Saethre-Chotzen syndrom. TWIST-gen; sekv.var
Saethre-Chotzen syndrom. TWIST-gen; sekv.var
TWIST
TWIST
DNA extraction, MLPA, PCR, DNA sequencing
DNA ekstraktion MLPAPCR DNA sekventering
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
DRPLA. ATN1-gen; sekv.var
DRPLA. ATN1-gen; sekv.var
DRPLA
DRPLA
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
FGFR2 relateret kraniosynostose, Crouzon syndrom; FGFR2-gen(exon 7, 8); sekv.var.
FGFR2 relateret kraniosynostose, Crouzon syndrom; FGFR2-gen(exon 7, 8); sekv.var.
CROUZON
CROUZON
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
NPU19187 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Pendred syndrome, DFNB4, SLC26A4-gene; sekv.var.
Pendred syndrom, DFNB4. SLC26A4-gen; sekv.var.
Pendred syndrome
Pendred syndrom
DNA extraction, MLPA, PCR, DNA sequencing
DNA ekstraktion, MLPA, PCR, DNA sekventering
NPU19191 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Spinal muskelatrofi. SMN1-gen; sekv.var.
Spinal muskelatrofi. SMN1-gen; sekv.var.
SMA
SMA
DNA extraction, MLPA
DNA ekstraktion, MLPA
NPU19187 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Pendred syndrom, DFNB4. SLC26A4
Pendred syndrom, DFNB4. SLC26A4
SLC26A4, MLPA
SLC26A4, MLPA
DNA ekstraction, MLPA, PCR
DNA ekstraktion, MLPA, PCR
NPU19239 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Amyloidosis I. TTR-gen; sekv.var.
Amyloidosis I. TTR-gen; sekv.var.
TTR
TTR
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
NPU19059 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Dystrophia myotonica type 1. DMPK-gen; sekv.var
Dystrophia myotonica type 1. DMPK-gen; sekv.var
DM1
DM1
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
Genomic DNA
Genomisk DNA (fra blod)
Y-deletions undersøgelse. Mikrodeletion i MSY
Y-deletions undersøgelse. Mikrodeletion i MSY
Y-DEL
Y-DEL
DNA extraction, MLPA
DNA ekstraktion, MLPA
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
FGFR3 relateret kraniosynostose, Muenke Syndrom; FGFR3-gen(exon 6); sekv.var
FGFR3 relateret kraniosynostose, Muenke Syndrom; FGFR3-gen(exon 6); sekv.var
MUENKE
MUENKE
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
NPU28725 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Parkinsons sygdom. PARK2-gen; sekv.var
Parkinsons sygdom. PARK2-gen; sekv.var
PARK
PARK
DNA extraction, MLPA, PCR, DNA sekventering
DNA ekstraktion, MLPA, PCR, DNA sekventering
NPU19081 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Friedreichs ataksi. FXN-gen; sekv.var
Friedreichs ataksi. FXN-gen; sekv.var
FRDA
FRDA
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Hypochondroplasi; FGFR3-gen (exon 12); sekv.var.
Hypochondroplasi; FGFR3-gen (exon 12); sekv.var.
Hypochondroplasia
Hypochondroplasi
DNA extraction, PCR, DNA sequencing
DNA ekstraktion, PCR, DNA sekventering
NPU19137 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Spinocerebellar ataksi type 3. ATXN3-gen; sekv.var
Spinocerebellar ataksi type 3. ATXN3-gen; sekv.var
SCA3
SCA3
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
NPU19058 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Beckers muskeldystrofi. DMD-gen; sekv.var.
Beckers muskeldystrofi. DMD-gen; sekv.var.
BMD
BMD
DNA extraction, MLPA
DNA ekstraktion, MLPA
NPU19109 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Chorea Huntington. HTT-gen; sekv.var
Chorea Huntington. HTT-gen; sekv.var
HC
HC
DNA extraction, PCR
DNA ekstraktion, PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Beckwith-Wiedemann syndrom. Pakke. Mikrodeletion, uniparental disomi og abnorm methylering i 11p15-regionen, CDKN1C-gen; sekv.var
Beckwith-Wiedemann syndrom. Pakke. Mikrodeletion, uniparental disomi og abnorm methylering i 11p15-regionen, CDKN1C-gen; sekv.var
BWS
BWS
DNA extraction, MS-MLPA
DNA ekstraktion, MS-MLPA
NPU19031 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Spinocerebellar ataksi type 6. CACNA1A-gen; sekv.var
Spinocerebellar ataksi type 6. CACNA1A-gen; sekv.var
SCA6
SCA6
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Spinocerebellar ataksi type 17. TBP-gen; sekv.var
Spinocerebellar ataksi type 17. TBP-gen; sekv.var
SCA17
SCA17
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
NPU39974 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
SHOX-relateret væksthæmning. SHOX-gen; sekv.var
SHOX-relateret væksthæmning. SHOX-gen; sekv.var
SHOX
SHOX
DNA extraction, MLPA, PCR, DNA sequencing
DNA ekstraktion, MLPA, PCR, DNA sekventering
NPU19039 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Cystisk fibrose. CFTR-gen; sekv.var
Cystisk fibrose. CFTR-gen; sekv.var
CF
CF
DNA extraction, ARMS, PCR (GenProbe)
DNA ekstraktion ARMS PCR (GenProbe)
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Charcot-Marie-Tooths sygdom type 1A
Charcot-Marie-Tooths sygdom type 1A
CMT1A, MLPA
CMT1A, MLPA
DNA extraction, MLPA, PCR
DNA ekstraktion, MLPA, PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Spinocerebellar ataksi type 2. ATXN2-gen; sekv.var
Spinocerebellar ataksi type 2. ATXN2-gen; sekv.var
SCA2
SCA2
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Ektodermal dysplasia. Microdeletion/-duplication in EDA, EDAR, EDARADD, WNT10A.
Ektodermal dysplasi. Mikrodeletion/-duplikation i EDA, EDAR, EDARADD, WNT10A.
Ektodermal dysplasi, MLPA
Ektodermal dysplasi, MLPA
DNA extraction, MLPA, PCR.
DNA ekstraktion, MLPA, PCR.
NPU19043 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Spielmeyer-Vogts sygdom. CLN3-gen; sekv.var
Spielmeyer-Vogts sygdom. CLN3-gen; sekv.var
CLN3
CLN3
DNA extraction, PCR, agarose gel electroforesis
DNA ekstraktion, PCR, agarose gel elektroforese
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Aneuploidi - analyse for aneuploidi for 13, 18, 21 og kønskromosomer med QF-PCR 
Aneuploidi - analyse for aneuploidi for 13, 18, 21 og kønskromosomer med QF-PCR 
ANEU
ANEU
DNA extraction, QF-PCR (GenProbe)
DNA ekstraktion, QF-PCR (GenProbe)
NPU19183 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Spinocerebellar ataksi type 7. ATXN7-gen; sekv.var
Spinocerebellar ataksi type 7. ATXN7-gen; sekv.var
SCA7
SCA7
DNA extraction, PCR/RP-PCR
DNA ekstraktion, PCR/RP-PCR
AAB0029 Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Array CGH (Komparativ Genomisk Hybridisering) 180K.Kromosom DNA (array CGH);sekv.var
Array CGH (Komparativ Genomisk Hybridisering) 180K.Kromosom DNA (array CGH);sekv.var
arrayCGH
arrayCGH
DNA extraction, possibly WGA, array CGH 180K 
DNA ekstraktion, evt. WGA, array CGH 180K 
Metaphase kromosomes (from blood)
Metafasekromosomer (fra blod)
Fanconi anemia
Fanconi anæmi
Chromosome analysis of pre- and postnatal samples, cultivated with mitimycin C.
Kromosomanalyse af postnatale prøver efter tilsætning af mitomycin C
Cell cultivation, treatment with mitomycin C, karyotyping
Celledyrkning, behandling med mitomycin C, karyotypering
Metaphase chromosomes
Metafasekromosomer (fra blod, CVS, amnionvæske, vævsbiopsi)
Karyotyping of cultivated cells
Kromosomanalyse af dyrkede celler for antalsfejl og strukturelle anomalier
Chromosome analysis of pre- and postnatal samples
Kromosomanalyse af præ- og postnatale prøver
Cell cultivation, karyotyping
Celledyrkning, karyotypering
Metaphase chromosomes
Metafasekromosomer (fra blod, CVS, amnionvæske, vævsbiopsi)
FISH-analyse for antalsfejl og strukturelle anomalier.
FISH-analyse for antalsfejl og strukturelle anomalier.
FISH
FISH
Cell cultivation, FISH
Celledyrkning, FISH
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
Hearing loss, gene panel, clinically suspect of hereditary hearing loss: ACTG1, ADCY1, BDP1, BSND, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL4A6, COL11A2, CRYM, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM65B, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HGF, HOMER2, ILDR1, KARS, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH9, MYH14, MYO1A, MYO3A, MYO6, MYO7A, MYO15A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TJP2, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1
Høretab, genpanel, klinisk mistanke om arvelig høretab: ACTG1, ADCY1, BDP1, BSND, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL4A6, COL11A2, CRYM, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM65B, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HGF, HOMER2, ILDR1, KARS, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH9, MYH14, MYO1A, MYO3A, MYO6, MYO7A, MYO15A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TJP2, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1
Hearing loss, gene panel
Høretab, genpanel
DNA extraction, SNP analysis, Illumina at FNE, AUH; sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
Noonan syndrome, gene panel: A2ML1, BRAF, CBL, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, HRAS, SPRED1, KAT6B
Noonan syndrom, genpanel: A2ML1, BRAF, CBL, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, HRAS, SPRED1, KAT6B
Noonan, panel
Noonan, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood, tissue biopsies)
Genomisk DNA (fra blod, vævsbiopsier)
Palmoplantar keratoderma (incl. Darier sygdom), gene panel: AAGAB, ADAM10, AP1S3, AQP5, ATP2A2, ATP2C1, BCO1, CAST, CTSC, DSC2, DSG1, DSP, GJB2, JUP, KANK2, KRT1, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT9, RHBDF2, RSPO1, SASH1, SERPINB7, SLURP1, TAT
Palmoplantar keratoderma (inkl. Darier sygdom), genpanel: AAGAB, ADAM10, AP1S3, AQP5, ATP2A2, ATP2C1, BCO1, CAST, CTSC, DSC2, DSG1, DSP, GJB2, JUP, KANK2, KRT1, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT9, RHBDF2, RSPO1, SASH1, SERPINB7, SLURP1, TAT
Palmoplantar keratoderma, panel
Palmoplantar keratoderma, panel
DNA ekstraction, Illumina NGS at FNE, AUH
DNA ekstraktion, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood, tissue biopsies)
Genomisk DNA (fra blod, vævsbiopsier)
Epidermolysis bullosa, gene panel: CAST, CD151, CHST8, CPOX, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FECH, FERMT1, HMBS, ITGA3, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, PPOX, RBPJ, SERPINB8, TFAP2A, TGM5, UROD, UROS
Epidermolysis bullosa, genpanel: CAST, CD151, CHST8, CPOX, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FECH, FERMT1, HMBS, ITGA3, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, PPOX, RBPJ, SERPINB8, TFAP2A, TGM5, UROD, UROS
Epidermolysis bullosa, panel
Epidermolysis bullosa, panel
DNA ekstraction, Illumina NGS at FNE, AUH
DNA ekstraktion, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomis DNA (from blood)
Genomisk DNA (fra blod)
Charcot-Marie-Tooths disease (CMT) demyelinating or axonal type, gene panel: AARS, ABHD12, AIFM1, ARHGEF10, ATL3, C10orf2, C12orf65, CCT5, COX6A1, CTDP1, DCAF8, DHTKD1, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SCN10A, SETX, SH3TC2, SLC25A46, SOX10, SPG11, SURF1, TDP1, TFG, TRIM2, TRPV4, TTR, TUBB3, VCP, YARS
Charcot-Marie-Tooth (CMT), genpanel. Klinisk mistanke om CMT af demyeliniserende, axonal eller intermediær type: AARS, ABHD12, AIFM1, ARHGEF10, ATL3, C10orf2, C12orf65, CCT5, COX6A1, CTDP1, DCAF8, DHTKD1, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SCN10A, SETX, SH3TC2, SLC25A46, SOX10, SPG11, SURF1, TDP1, TFG, TRIM2, TRPV4, TTR, TUBB3, VCP, YARS
CMT, panel
CMT, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood, tissue biopsis)
Genomisk DNA (fra blod, vævsbiopsier)
Ektodermal dysplasia, gene panel: ABCC9, ADAM10, ADAM17, AGPAT2, AIRE, ALPL, ALX4, AMELX, ANKRD11, ANTXR1, ANTXR2, APCDD1, ARHGAP31, ARID1A, ARID1B, ATP2C1, AXIN2, B3GALT6, BANF1, BCOR, BCS1L, BRAF, BSCL2, C4orf26, CBS, CDAN1, CDH3, CNNM4, COL11A1, COX4I2, CTSC, CYP26C1, DCAF17, DCLRE1C, DHCR7, DLL4, DLX3, DSC2, DSC3, DSG4, DSP, DSPP, ECM1, EDA, EDAR, EDARADD, EDNRA, EFNB1, EIF2AK3, ENAM, ENPP1, EOGT, EVC, EVC2, FAM20A, FAM83H, FDPS, FGF10, FGF23, FGF3, FGFR3, FOXN1, FOXP3, FREM1, FUCA1, FZD6, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, HOXC13, HPGD, HR, HRAS, IFT122, IFT43, IL36RN, IRF6, IRX5, ITGA3, ITGB6, KLK4, KRAS, KRT13, KRT17, KRT25, KRT6A, KRT6B, KRT6C, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LMNA, LONP1, LPAR6, LTBP3, MMP20, MPLKIP, MSX1, MVK, NECTIN1, NECTIN4, NFKBIA, NLRP1, NLRP3, NOTCH1, NRAS, PAX3, PAX9, PHEX, PIGV, PITX2, PKP1, PLCD1, PLCG2, POC1A, POLR1C, POLR3A, POLR3B, PORCN, PTCH1, PTCH2, PTEN, PTHLH, RBM28, RBPJ, RIN2, RMRP, RPL21, RSPO4, RUNX2, SATB2, SEC23A, SETBP1, SHOC2, SLC24A4, SLC39A4, SLC4A4, SLC6A19, SMARCAD1, SMARCAL1, SMOC2, SNAI2, SNRPE, SOX18, STAT5B, SUFU, TBX3, TFAP2A, TMC6, TMC8, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRPS1, TWIST2, UBR1, WDR19, WDR35, WDR72, WNT10A, WNT10B, WNT5A, WNT7A, ZMPSTE24
Ektodermal dysplasi, genpanel: ABCC9, ADAM10, ADAM17, AGPAT2, AIRE, ALPL, ALX4, AMELX, ANKRD11, ANTXR1, ANTXR2, APCDD1, ARHGAP31, ARID1A, ARID1B, ATP2C1, AXIN2, B3GALT6, BANF1, BCOR, BCS1L, BRAF, BSCL2, C4orf26, CBS, CDAN1, CDH3, CNNM4, COL11A1, COX4I2, CTSC, CYP26C1, DCAF17, DCLRE1C, DHCR7, DLL4, DLX3, DSC2, DSC3, DSG4, DSP, DSPP, ECM1, EDA, EDAR, EDARADD, EDNRA, EFNB1, EIF2AK3, ENAM, ENPP1, EOGT, EVC, EVC2, FAM20A, FAM83H, FDPS, FGF10, FGF23, FGF3, FGFR3, FOXN1, FOXP3, FREM1, FUCA1, FZD6, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, HOXC13, HPGD, HR, HRAS, IFT122, IFT43, IL36RN, IRF6, IRX5, ITGA3, ITGB6, KLK4, KRAS, KRT13, KRT17, KRT25, KRT6A, KRT6B, KRT6C, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LMNA, LONP1, LPAR6, LTBP3, MMP20, MPLKIP, MSX1, MVK, NECTIN1, NECTIN4, NFKBIA, NLRP1, NLRP3, NOTCH1, NRAS, PAX3, PAX9, PHEX, PIGV, PITX2, PKP1, PLCD1, PLCG2, POC1A, POLR1C, POLR3A, POLR3B, PORCN, PTCH1, PTCH2, PTEN, PTHLH, RBM28, RBPJ, RIN2, RMRP, RPL21, RSPO4, RUNX2, SATB2, SEC23A, SETBP1, SHOC2, SLC24A4, SLC39A4, SLC4A4, SLC6A19, SMARCAD1, SMARCAL1, SMOC2, SNAI2, SNRPE, SOX18, STAT5B, SUFU, TBX3, TFAP2A, TMC6, TMC8, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRPS1, TWIST2, UBR1, WDR19, WDR35, WDR72, WNT10A, WNT10B, WNT5A, WNT7A, ZMPSTE24
Ektodermal dysplasia, panel
Ektodermal dysplasi, panel
DNA ekstraktion, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA
Genomisk DNA (fra blod, CVS, amnionvæske, dyrkede celler, vævsbiopsier)
GJB2/6 and SLC26A4 related hearing loss, GJB2, GJB6, SLC26A4; sekv.var
GJB2/6 og SLC26A4 relateret høretab, GJB2, GJB6, SLC26A4; sekv.var
GJB2, GJB6, SLC26A4
GJB2, GJB6, SLC26A4
DNA extraction, SNP analysis, Illumina NGS at FNE, AUH; sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood, tissue biopsies)
Genomisk DNA (fra blod, vævsbiopsier)
Ichtyosis, gene panel: ABCA12, ABHD5, ADAMTS17, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, ATL1, CARD14, CERS3, CHKB, CHST8, CLDN1, COG6, CSTA, CYP4F22, DOLK, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2H5, KRT1, KRT10, KRT2, LIPN, LOR, MBTPS2, MPDU1, MPLKIP, NIPAL4, NSDHL, PEX7, PHGDH, PHYH, PIGA, PIGL, PMVK, PNPLA1, POMP, PSAT1, PSPH, SERPINB8, SLC27A4, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TGM1, TRPV3, VPS33B
Ichtyosis, genpanel: ABCA12, ABHD5, ADAMTS17, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, ATL1, CARD14, CERS3, CHKB, CHST8, CLDN1, COG6, CSTA, CYP4F22, DOLK, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2H5, KRT1, KRT10, KRT2, LIPN, LOR, MBTPS2, MPDU1, MPLKIP, NIPAL4, NSDHL, PEX7, PHGDH, PHYH, PIGA, PIGL, PMVK, PNPLA1, POMP, PSAT1, PSPH, SERPINB8, SLC27A4, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TGM1, TRPV3, VPS33B
Ichtyosis, panel
Ichtyosis, panel
DNA ekstraktion, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
Polycystic kidney disease, gene panel: GANAB, HNF1B, PKD1, PKD2, PKHD1, TMEM67
Polycystisk nyresygdom, genpanel: GANAB, HNF1B, PKD1, PKD2, PKHD1, TMEM67
PKD, panel
PKD, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
Livercholestasis, gene panel: ATP8B1; ABCB11, ABCC4, ABCG5, ABCC2, JAG1, NOTCH2, TJP2, UGT1A1
Leverkolestase, genpanel: ATP8B1; ABCB11, ABCC4, ABCG5, ABCC2, JAG1, NOTCH2, TJP2, UGT1A1
Livercholestasis, panel
Leverkolestase, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Genomic DNA (from blood)
Genomisk DNA (fra blod)
Neurofibromatosis, gene panel: NF1, SPRED1
Neurofibromatose, genpanel: NF1, SPRED1
NF1, panel
NF1, panel
DNA extraction, SNP analysis, Illumina NGS at NGS core facility, AUH (part of MoMA), Sanger verification
DNA ekstraktion, SNP-analyse, Illumina NGS hos fælles NGS enhed, AUH (del af MoMA), Sanger verificiering
Free circulating DNA from plasma
Frit cirkulerende DNA fra plasma
Non-invasive prenatal screening test (NIPT) for aneuploidi of 13, 18, 21, and sex chromosomes
Noninvasiv prænatal screeningstest (NIPT) for aneuploidi for 13, 18, 21 og kønskromosomer
NIPT
NIPT
DNA extraction, Whole Genome Sequencing
DNA ekstraktion, Whole Genome Sequencing