Universitätsklinikum Freiburg KJK-Kinder- und Jugendklinik Sektion Pädiatrische Genetik

Official name: Universitätsklinikum Freiburg KJK-Kinder- und Jugendklinik, Klinik I: Allgemeine Kinder- und Jugendmedizin, Sektion Pädiatrische Genetik, Diagnostiklabor Pädiatrische Genetik

12 capabilities Accredited since January 2026 Verified Oct 2026 One of 3,209 in Germany
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Breisacher Straße 62
Freiburg 79106 , Germany

Accreditation

Active DAkkS D-ML-13134-10-01
www.uniklinik-freiburg.de/kinderklinik/behandlu... Prefer to enquire through us? Send an enquiry
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Offers molecular genetic testing for pediatric genetic disorders using next-generation sequencing pipelines and related molecular techniques on blood, amniotic fluid, and chorionic villus samples.

Accreditation Details

Accreditation Body

DAkkS

Number

D-ML-13134-10-01

Status

Active

Since

22 January 2026

Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.

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Additional scope documents

Download Scope PDF · D-ML-13134-10-00

Test Capabilities (12)
Standard Reference Description Category
(BRCA1, BRCA2, AR, ATM, ATR, BARD1, BRIP1, CDH1, CDK12, CHEK1, CHEK2, ESR1, FANCA, FANCL, HDAC2, HOXB13, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RADS54L, STK11, TP53, BRAF, HER2, KRAS, NRAS, PIK3CA) (BRCA1, BRCA2, AR, ATM, ATR, BARD1, BRIP1, CDH1, CDK12, CHEK1, CHEK2, ESR1, FANCA, FANCL, HDAC2, HOXB13, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RADS54L, STK11, TP53, BRAF, HER2, KRAS, NRAS, PIK3CA) Molecular Diagnostics / PCR
(FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBLN5, HELLS, KCNJ6, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, POLD1, POLH, PRKDC, PTDSS1, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, SPRTN, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRN, WRAP53, XPA, XPC, ZMPSTE24 (FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBN1, FBLN5, HELLS, KCNJ6, LIPE, LMNA, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, PALB2, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PRKDC, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, SLX4, SMC2, SMC4, SPRTN, TINF2, TFAP2A, UBE2T, WFS1, WRN, XPA, XPC, ZMPSTE24 Molecular Diagnostics / PCR
(FAAP95), FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FBN1, FBLN5, HELLS, KCNJ6, LIPE, LMNA, LMNB1, LTPB4, MRE11A, NAA10, NARF, NEHJ1, NOLA2, NOLA3, PALB2, PARN, PCNA, PDGFRB, PEX11B, PIK3R1, PLIN1, POLD1, POLH, PPARG, PTDSS1, PTRF, PYCR1, RAD51C, RECQL4, RIN2, RTEL1, SLX4, SMC2, SMC4, TERC, TERT, TINF2, TFAP2A, UBE2T, WFS1, WRAP53, XPA, XPC, ZMPSTE24 EYA1, FAM126A, FOXC1, FOXE3, FYCO1, GALK1, GALT, GCNT2, GEMIN4, GJA3, GJA8, GLA, HMX1, HSF4, JAM3, LEMD2, LIM2, LONP1, LSS, LTBP2, MAF, MIP, MIR184, MYH9, NDP, NHS, OCRL, OPA3, P3H2, PAX6, PEX7, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL2, RECQL4, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TMEM114, UNC45B, VIM, VSX2, WFS1 Molecular Diagnostics / PCR
ACP4, AMBN, AMELX, AMTN, COL1A1, COL2A1, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMB3, MMP20, ODAPH, RELT, SLC24A4, TRIP11, WDR72. ACP4, AMBN, AMELX, AMTN, COL1A1, COL2A1, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMB3, MMP20, ODAPH, RELT, SLC24A4, TRIP11, WDR72. Molecular Diagnostics / PCR
CHD8, DIS3L2, DNMT3A, EED, EZH2, GPC3, HERC1, HIST1H1E, NFIX, NSD1, OFD1, RNF135. CHD8, DIS3L2, DNMT3A, EED, EZH2, GPC3, HERC1, HIST1H1E, NFIX, NSD1, OFD1, RNF135. Molecular Diagnostics / PCR
Entwicklungsstörungen, Whole Exome Sequencing (SNVs, Indels und CNVs) Entwicklungsstörungen, Whole Exome Sequencing (SNVs, Indels und CNVs) Molecular Diagnostics / PCR
FGFR3, FLNB, FLVCR2, FOXP3, FSHB, FGFR3, FLNB, FLVCR2, FOXP3, FSHB, Other
PIK3R1, PKLR, PLAG1, PLOD3, PNPLA6, PIK3R1, PKLR, PLAG1, PLOD3, PNPLA6, Other
PSAT1, PTDSS1, PTH1R, PTHLH, RAB23, PSAT1, PTDSS1, PTH1R, PTHLH, RAB23, Other
SCLT1, SDCCAG8, SIX2, SLC41A1, SCLT1, SDCCAG8, SIX2, SLC41A1, Other
Skeletterkrankungen, NGS-Panel-Analyse (SNVs, Indels und CNVs), Gene: ABCC9, ACAN, ACP5, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, ALPL, ALX3, ALX4, AMER1, ANKH, ANO5, ARHGAP31, ARID1A, ARID1B, ARID2, ARSB, ARSL, ASXL1, ATR, B3GALT6, B3GAT3, B4GALT7, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CCDC8, CCN6, CCNQ, CDC45, CDH3, CDKN1C, CDT1, CENPJ, CEP120, CEP152, CFAP410, CHD7, CHST3, CHSY1, CILK1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREB3L1, CREBBP, CRTAP, CSGALNACT1, CSPP1, CTSA, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, CYP3A4, DDR2, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DNA2, DNAJC21, DOCK6, DONSON, DPF2, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EFL1, EFNB1, EFTUD2, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, FAM111A, FAM20C, FBN1, FERMT3, FGF10, FGF16, Skeletterkrankungen, NGS-Panel-Analyse (SNVs, Indels und CNVs), Gene: ABCC9, ACAN, ACP5, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, ALPL, ALX3, ALX4, AMER1, ANKH, ANO5, ARHGAP31, ARID1A, ARID1B, ARID2, ARSB, ARSL, ASXL1, ATR, B3GALT6, B3GAT3, B4GALT7, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CCDC8, CCN6, CCNQ, CDC45, CDH3, CDKN1C, CDT1, CENPJ, CEP120, CEP152, CFAP410, CHD7, CHST3, CHSY1, CILK1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREB3L1, CREBBP, CRTAP, CSGALNACT1, CSPP1, CTSA, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, CYP3A4, DDR2, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DNA2, DNAJC21, DOCK6, DONSON, DPF2, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EFL1, EFNB1, EFTUD2, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, FAM111A, FAM20C, FBN1, FERMT3, FGF10, FGF16, Other
Ziliopathien, NGS-Panel-Analyse (SNVs, Indels und CNVs), Gene: ACVR2B, AHI1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, C2CD3, C8orf37, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP298, CFAP53, CHD1L, CPLANE1, CRELD1, CSPP1, DCDC2, DDX59, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2LI1, EVC, EVC2, FRAS1, GANAB, GAS8, GDF1, GLIS2, HNF1B, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, INPP5E, INTU, INVS, IQCB1, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LEFTY2, LRRC6, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MMP21, MUC1, NEK1, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PDE6D, PIH1D3, PKD1, PKD1L1, PKD2, PKHD1, POC1B, ROBO2, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, Ziliopathien, NGS-Panel-Analyse (SNVs, Indels und CNVs), Gene: ACVR2B, AHI1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, C2CD3, C8orf37, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP298, CFAP53, CHD1L, CPLANE1, CRELD1, CSPP1, DCDC2, DDX59, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2LI1, EVC, EVC2, FRAS1, GANAB, GAS8, GDF1, GLIS2, HNF1B, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, INPP5E, INTU, INVS, IQCB1, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LEFTY2, LRRC6, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MMP21, MUC1, NEK1, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PDE6D, PIH1D3, PKD1, PKD1L1, PKD2, PKHD1, POC1B, ROBO2, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, Other

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