Optimization of diagnostic yield
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
The genetic knowledge around rare hereditary diseases is rapidly increasing. Patients having received a negative diagnostic report may thus gain from a re-analysis of their exomes or genomes. A recent CENTOGENE-initiated study provided impressive evidence for this hypothesis. In a set of patients with neurodevelopmental disorders, for whom no diagnosis could be established prior to 2017, re-analysis revealed several potentially causative variants in disease genes described since. These findings were published in the June issue of Journal of Neurodevelopmental Disorders.