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Publications about genetic testing for neurological disorders
  1. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Joanne Trinh, Phd 1 et al.
1 University of Luebeck
June 25, 2019

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.