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About us About us

About us
About us

The Genome Diagnostics Section of the UMC Utrecht Department of Genetics specializes in prenatal and postnatal diagnostics of a large number of hereditary, congenital and acquired disorders. In accordance with ISO 15189 accreditation, the Section uses the most advanced analysis methods and new tests are continuously being developed.

Staff

Clinical Laboratory Geneticists are specialized in the sub specialisms of molecular diagnostics or cytogenetics Furthermore, the Section is staffed with a bio-informatician, laboratory technicians, , secretaries and administrative assistants and works in close collaboration with the clinical genetics and research sections . Prof. Dr. J.K. Ploos van Amstel, Clinical Laboratory Geneticist, is Head of the Genome Diagnostics Section, and Deputy Head of the Department of Medical Genetics.

Laboratory for Clinical Cytogenetics:


Dr. E. van Binsbergen,  Clinical Laboratory Geneticist
Dr. A. Buijs, Clinical Laboratory Geneticist
Dr K. Huijsdens-van Amsterdam, Clinical Laboratory Geneticist
Dr. G.H. Schuring-Blom, Clinical Laboratory Geneticist
Dr. L.T.J.N. van der Veken, Clinical Laboratory Geneticist

Mr. D. Sondervan, BSc , Laboratory Manager

 

 

Laboratory for Clinical Molecular Genetics:


Dr. D. Dooijes, Clinical Laboratory Geneticist 
Dr. K.L.I. van Gassen, Clinical Laboratory Geneticist 
Dr. M.E. van Gijn, Clinical Laboratory Geneticist 
Dr. M.J.A. van Kempen, Clinical Laboratory Geneticist 
Dr. M.J. Koudijs, Clinical Laboratory Geneticist in training
Dr. R.B. van der Luijt, Clinical Laboratory Geneticist 
Dr. A. van der Zwaag, Clinical Laboratory Geneticist

Mr. R. Zewald, BSc, Laboratory Manager

 

Bio-informatics staff member:

Dr. M.G. Elferink, Bio-informatician Clinical Genetics

Quality Officer:

Mrs. B. Smith, BSc

Staff Secretary

Mrs. M. Baas-Luijbe

Scientific research

Next to patient care, the Genome Diagnostics Section is involved in scientific research in close collaboration with the sections of the Department of Medical Genetics and with other departments of the university hospital within the clinical domains of the hospital. Main topics include:

 

  • The immune system
  • Blood
  • Cardiovascular system
  • Brain
  • Skin
  • Cancer
  • Gastrointestinal system
  • Kidneys
  • Development
  • Muscles
  • Metabolism
  • Intellectual disability
  • Rare diseases/Orphan diseases

 

Education and Training

The Genome Diagnostics Section is officially recognized by the Vereniging Klinisch Genetische Laboratoriumdiagnostiek (VKGL) [Dutch Society of Clinical Genetic Laboratory Diagnostics] as a training institute for clinical laboratory geneticists.

Staff members within this Section are also involved in teaching in the curricula of Medical and Biomedical Sciences at Utrecht University.

Education and Training Secretary

V. van Wijngaarden
088 75 538 11

Quality Assurance

The Genome Diagnostics Section is accredited by the Board of Accreditation in accordance with NEN-EN-ISO 15189:2007 standard "Special Requirements for Quality and Competence Particular to Medical Laboratories". The scope (list of activities) for which the accreditation applies, can be found on the website of the Board of Accreditation under registration number M001. Our IT service has implemented the NEN 7510 standard "Medical Informatics - Information Security in Health Care - General".

The Genome Diagnostics Section takes part in external quality schemes organized by the United Kingdom Quality Assessment Service (UK-NEQAS) and the European Molecular Quality Network (EMQN).

    Collaborative partnerships

    The Genome Diagnostics Section collaborates with a number of specialisms both within and outside UMC Utrecht and several expert working groups have been established. The laboratory specialists of the Genome Diagnostics Section are members of the Vereniging Klinisch Genetische Laboratoriumdiagnostiek (VKGL) [Dutch Society of Clinical Genetic Laboratory Diagnostics]. The primary objective of this society is to guarantee the availability of high quality diagnostic tests for an increasing number of hereditary and congenital disorders.

    A complete overview of the Dutch DNA diagnostics laboratories and the genetic tests that are currently available can be consulted on the website of the LOD.

     

     

    Contact

    Visting adress

    UMC Utrecht
    Location WKZ
    Lundlaan 6
    3584 EA Utrecht

    088 75 540 90 (08:30 -17:00 hr) or

    088 75 538 00 (8:30 - 16:45 hr)

    Mailing adress

    UMC Utrecht, departement Medical Genetics
    KC.04.084.2
    PB: 85090
    3508 AB Utrecht

    E-mail: genoomdiagnostiek@umcutrecht.nl

    Twitter @UMCUgenetica

    Working at UMC Utrecht

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