Head of the section: Dr. Erik Sistermans and Prof. Marcel Mannens
GENOME ANALYSIS
Careful Analysis of Genomic DNA to Identify Disease-causing Alterations
With an annual production of over 30.000 diagnostic tests – in addition to more than 45.000 NIPT screening tests (45% of the national NIPT screening) – the Genome Analysis laboratory is one of the largest genomic diagnostics laboratories in the Netherlands. The lab offers a broad spectrum of clinical genetics tests, including several tests for which the laboratory is the national referral diagnostic center.
“With our state-of-the-art facilities, we are able to provide accurate genomic diagnoses for patients and a wealth of genomic data and insights for researchers.”- Prof. Marcel Mannens
In addition to diagnostics, the laboratory participates in translational and fundamental research and is active in the education of students, specialists, and the general public. The laboratory is ISO15189 accredited and plays a role in international quality networks GenQA and EMQN.
The Core Facility Genomics (CFG) has state-of-the-art genomics equipment and expertise to assist research groups and diagnostic labs primarily at the Amsterdam UMC, but also externally. Thanks to centralized investment, management, and maintenance of genomics equipment, the facility offers high quality diagnostics and assurance with a flexible research mindset.
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