Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen
- Afdeling Genetica
- Radboudumc - Radboud universitair medisch centrum
- Geert Grooteplein-Zuid 10
- 6525 GA NIJMEGEN
- NETHERLANDS
- Status : Public
- Telefon : +31 (0)24 361 3799
- Dodatkowy telefon : -
- Fax : +31 (0)24 361 6658
- Strona internetowa
- Kontakt
email- EUGT number : EUGTNL79049
Kontakt
- Kierownik laboratorium: Dr H.G. [Helger] IJNTEMA
- Director of department: Pr H.G. [Han] BRUNNER
- Professionals: Dr B.H.W. [Brigitte] FAAS, Dr H.G. [Helger] IJNTEMA, Dr E.J. [Erik-Jan] KAMSTEEG
Dane dotyczące zarządzania jakością
Akredytacja
Akredytacja
Organism
Year
Accreditation scope
EQA
EQA scheme(s) organized by CEQAS
Acquired array exploratory pilot and survey
2015
Acquired microarray
2016, 2017
Acute Lymphoblastic Leukaemia
2016
Amniotic Fluid
2016
Bloods - Postnatal
2015, 2016, 2017
Constitutional microarray (postnatal)
2015, 2016, 2017
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA)
2015
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA/BoBs)
2017
Mature B and T neoplasms (G-banding/FISH)
2015
Myeloid Leukaemia (AML; MDS; CML)
2015, 2017
Myeloma exploratory pilot and survey
2015
Prenatal array exploratory pilot and survey
2015
Prenatal microarray
2017
EQA scheme(s) organized by CF Network
CF (Cystic fibrosis)
2015, 2016, 2017, 2018, 2020
EQA scheme(s) organized by EMQN
AZF (Y-Chromosome microdeletions)
2015, 2018, 2020
CAH (Congenital Adrenal Hyperplasia)
2015, 2016, 2018, 2020
DFNB1 (Hereditary Deafness)
2015, 2016, 2018, 2020
DM (Myotonic dystrophy)
2019
FAP (Familial Adenomatous Polyposis Colon Cancer)
2015, 2017
FRDA (Friedreich ataxia)
2015, 2016, 2020
Germline NGS mutation testing
2019
HBOC (Hereditary Breast and Ovarian Cancer) - panel testing
2019
HFE (Hereditary hemochromatosis)
2015, 2016, 2017, 2018, 2019, 2020
HNPCC (Hereditary non-polyposis colon cancer)
2020
MEN2 (Multiple Endocrine Neoplasia Type 2)
2016, 2018
Mitochondrial metabolic disorders
2019, 2020
PKU (Phenylketonuria)
2019, 2020
SCA (Spinocerebellar ataxias)
2017, 2018
SCID (Severe Combined Immunodeficiency) PILOT
2020
SEQ (DNA sequencing) - Full scheme
2019
VHL (Von Hippel Lindau syndrome)
2017
EQA scheme(s) organized by GenQA
Acquired array (CLL/MDS)
2019
Additional lung cancer biomarkers
2018, 2019
Amniotic Fluid
2019
BRAF and MLH1 promoter methylation analysis for mismatch repair analysis
2019
BRCA testing in ovarian cancer -germline pilot
2018
BRCA testing in ovarian cancer -somatic pilot
2018
Blood -postnatal
2018, 2019
Chorionic Villus
2018
Chromosome Breakage Syndromes
2019
Constitutional CNV detection (array) (previously Constitutional microarray analysis - postnatal sample)
2018, 2019
DNA Quantification
2019
DNA extraction from FFPE tissue
2018
DNA extraction from blood
2019
Fabry disease
2019
Lymphoma (FFPE)
2019
Lynch syndrome
2018
MCC & sexing
2018
Mature B & T cell neoplasms (G-banded)
2018
Microsatellite instability testing (MSI)
2019
Molecular Rapid Aneuploidy (MRA)
2019
Molecular analysis in lung cancer
2018
Myeloid (AML/MDS/CML)
2019
Myeloma
2018
Pathogenicity of sequence variant (interp)
2018, 2019
Phaeochromocytoma and Paraganglioma Disorders
2019
Polyposis
2019
Prenatal constitutional CNV detection (previously Prenatal microarray)
2019
Products of Conception/Fetal tissue (Molecular methods)
2018
Severe Developmental Delay pilot
2019
X-inactivation
2019
mtDNA
2018
EQA scheme(s) organized by UKNEQAS
Additional lung biomarkers PILOT
2016
BRCA
2015, 2017
BRCA testing in ovarian cancer (somatic and germline) PILOT
2016
Gastrointestinal stromal tumour (genotyping)
2015
Lung cancer
2015, 2016
Lynch syndrome
2016
Melanoma
2015
Microsatellite instability molecular testing (genotyping)
2015
Mitochondrial diseases
2015, 2016, 2017
Myotonic dystrophy
2015, 2016, 2017
Pathogenicity of sequence variants (interpretation)
2016
Pathogenicity of sequence variants (interpretation) PILOT
2015
Reporting of NGS incidental findings in solid tumours PILOT
2015
Rett syndrome
2016
Sarcoma PILOT
2015, 2016
Von Hippel-Lindau syndrome (interpretation)
2015
Dodatkowe informacje
Activities of this institution
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