About NGS services

From mid-July 2018 we offer molecular diagnostics of disease-associated mutations conducted with targeted Next Generation Sequencing (NGS).

For each disease available we considered the relevant genes. These possibilities for mutation analysis is an addition to our biochemical and functional testing, but can also be used for the initial diagnosis of a specific defect. Specific target genes for each disease are brought together in panels, with which we perform diagnostics for genetic variants in the context of clotting, the complement system, red blood cell membrane defects, red blood cell enzyme deficiencies and ion transport defects, hemoglobinopathies, thrombocytopaties, hematological malignancies and immune deficiencies.

You will find more information about the composition of these panels on these webpages.