We have updated our panel for epilepsy, metabolic, and brain development disorders, according to recent scientific findings. The update adds over 90 new genes to this panel. The gene sets for epilepsy and developmental delay (EPI02) and for macrocephaly (BRN04) benefit most from the changes and now comprise 97 and 55 genes, respectively. For the macrocephaly gene set, in particular, genes linked with macrocephaly-associated RASopathies have been included.
In addition to the extension of many gene sets, the following have been newly added:
– Coffin-Siris syndrome (BRN12)
– Maturity-onset diabetes of the young (MODY) (MET13)
– Fatty acid oxidation disorders (MET15)
The gene set for Joubert syndrome (BRN07) is no longer part of this panel, but offered as part of the panel for eye diseases (EYE07). Since the introduction of the first version of this diagnostic panel in May 2010, the number of investigated genes has increased twelvefold and now comprises 670 genes. We are pleased to have made important contributions to patient management and to inform clinicians on the appropriate treatment selection for thousands of patients. Through this latest update, we continue our large panel approach and enable an even greater likelihood of detecting causal variants.
The panel, which is now in the 8th version, is available immediately. Our diagnostics support team is available at +49 7071 565 44 55 or firstname.lastname@example.org.