Genome Diagnostics

The Genome Diagnostics section offers a range of cytogenetic and molecular genetic tests. We have 11 staff members, including clinical molecular geneticists and clinical cytogeneticists, who are all board certified.

 

The DNA laboratory routinely performs mutation analysis for a wide range of disorders including Lynch syndrome, hereditary breast-ovarian cancer, hereditary retinoblastoma, fragile X syndrome, cystic fibrosis, spinal muscular atrophy, L1 syndrome, and (dilated) cardiomyopathy. Our techniques include CSCE, MLPA and sequence analysis. The DNA laboratory is equipped with automated DNA isolation equipment and robotic systems for gene analyses.

The cytogenetics laboratory offers pre- and postnatal karyotyping, including FISH, array-CGH analysis, and fibroblast culture. Karyotyping of tumours (mainly bone marrow/lymphocytes) is offered by a specialised unit in the laboratory. The cytogenetic laboratory is equipped with automated harvesting equipment and karyotyping units.

In total, the genome diagnostics section performs approximately 12,500 diagnostic tests every year (7000 DNA diagnostic tests; 1000 prenatal cytogenetic tests; 2000 postnatal and tumour cytogenetic tests; 1000 FISH tests; and 1500 array-CGH tests).

More information: Dutch referring physicians can find practical information on requesting molecular genetic or cytogenetic diagnostic testing by our lab on the UMCG website (in Dutch) (choose “Professionals” in the menu)

Foreign physicians should contact the head of diagnostics Prof. Richard Sinke, PhD, for further information. Telephone: +31 50 3617100