Molecular Genetics

With Next Generation Sequencing, we employ a modern technology that enables comprehensive and cost-efficient analyses, including panel- , exome- , and genome-wide approaches.

Depending on the clinical question, we also perform conventional molecular genetic testing for known familial mutations using Sanger sequencing, as well as MLPA (Multiplex Ligation-dependent Probe Amplification) analyses for gene dosage determination. When appropriate, different analytical strategies are combined to achieve the most informative result.