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

13 capabilities Accredited since January 2026 Verified May 2026 One of 3,188 in Germany
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Breisacher Straße 62
Freiburg 79106 , Germany

Accreditation

Active DAkkS D-ML-13134-10-01
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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 (13)
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
(FANCB), FANCF, FANCI, GMNN, HNRNPU, KATNB1, KIF11, KMT2B, LAMB1, LIG4, MCPH1, MFSD2A, NHEJ1, NIN, NBN, ORC1, ORC4, ORC6, PAFAH1B1(LIS1), PCNT, PALB2, PCNA, PHC1, PHF6, PHF9, PPM1D, RAD50, RAD51C, RBBP8, RELN, RMI1, RNU4ATAC, RTTN, SASS6, SLX4, STIL, TRAIP, TUBA1A, UBE2T, WDR62, XRCC4, ZNF335 DMD, LMNA, MYBPC3, MYH7, TNNT2, TPM1, ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CASQ2, CRYAB, CSRP3, CFT1, DES, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FKTN, GATAD1, ILK, LAMA2, LAMA4, LAMP2, LDB3, MURC, MYH6, MYL2, MYL3, MYPN, NEXN, NPPA, PDLIM3, PLN, PRDM16, 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
BCL10, BCL2, BIRC3, BRAF, BTK, CARD11, CCL22, CCND1, CD28, CD79B, CREBBP, CXCR4, DIS3, DNMT3A, EGR1, EP300, ETV6, EZH2, FBXW7, FLT3, FOXO1, FYN, ID3, IDH2, IKZF1, IL7R, IRF4, JAK1, JAK2, JAK3, KLF2, KLHL6, KMT2D, KRAS, MAP2K1, MEF2B, MYC, MYD88, NOTCH1, NOTCH2, NRAS, PAX5, PHF6, PLCG1, PLCG2, POT1, PTEN, RHOA, RPS15, RUNX1, SF3B1, SGK1, BCL10, BCL2, BIRC3, BRAF, BTK, CARD11, CCL22, CCND1, CD28, CD79B, CREBBP, CXCR4, DIS3, DNMT3A, EGR1, EP300, ETV6, EZH2, FBXW7, FLT3, FOXO1, FYN, ID3, IDH2, IKZF1, IL7R, IRF4, JAK1, JAK2, JAK3, KLF2, KLHL6, KMT2D, KRAS, MAP2K1, MEF2B, MYC, MYD88, NOTCH1, NOTCH2, NRAS, PAX5, PHF6, PLCG1, PLCG2, POT1, PTEN, RHOA, RPS15, RUNX1, SF3B1, SGK1, Molecular Diagnostics / PCR
GPC3, HERC1, HIST1H1E, NFIX, OFD1, RNF135. GPC3, HERC1, HIST1H1E, NFIX, OFD1, RNF135. Molecular Diagnostics / PCR
PYCR1, RNF213, ROBO4, SETD5, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, UPF3B, ZDHHC9, ZNF469 PYCR1, RNF213, ROBO4, SETD5, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, UPF3B, ZDHHC9, ZNF469 Molecular Diagnostics / PCR
WDR73, WNT4, WNT5A, XRCC4, YY1, ZMPSTE24, ZNF335. WDR73, WNT4, WNT5A, XRCC4, YY1, ZMPSTE24, ZNF335. Molecular Diagnostics / PCR
(ABCA4, ADAM9, CFAP418, CDHR1, CERKL, CNGB3, CRX, EYS, FSCN2, GUCY2D, KCNV2, PDE6C, POC1B, PROM1, RAB28, RPE65, RPGRIP1, TULP1, DRAM2, SEMA4A, PCARE, GUCA1A, RIMS1, TTLL5, TLCD3B, PITPNM3, UNC119, RAX2, RPGR, CACNA1F, COG6, OPN1LW ); SNV, CNV CHMP2B, DCTN1, ERBB4, FIG4, GBE1, GLE1, GRN, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, MAPT, MATR3, MME, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TAF15, TARDBP, TBK1,TUBA4A, UBQLN2, VAPB, VCP, VEGFA, VPS54) Other
Birt-Hogg-Dubé Syndrom (BAP1, CDC73, CDKN1B, CHEK2, COL3A1, CYLD, EPCAM, FBN1, FH, FLCN, IDH2, MAX, MEN1, MET, MLH1, MSH2, MSH6, PMS2, PRKAR1A, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, TSC1, TSC2, VHL ); SNV, CNV TL1, MT-TS2, MTPAP, MTRFR, MTTP, MVK, MYO7A, NAALADL1, NBAS, NDP, NDUFS2, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUS1, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B) Other
CNVs), Gene: CNVs), Gene: Other
NGS-Panel-Analyse (SNVs, Indels NGS-Panel-Analyse (SNVs, Indels Other

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