Novel MECP2 Mutation c.1162_1172del p.Pro388 in Two Patients with Symptoms of Atypical Rett Syndrome.

Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.

CeGaT Introduces Regular Re-evaluation of Variants of Uncertain Significance (VUS)

CeGaT’s VUS re-evaluation reassesses previously reported variants of uncertain clinical significance (VUS) as soon as new scientific evidence on the pathogenicity of the variant is available. This leads to an even higher number of diagnoses made by CeGaT. Variants of uncertain clinical significance (VUS) are one of the five classes defined by the American College […]

Update of the Molecular Pathology Panel for Cancer Diagnostics

CeGaT GmbH has expanded its molecular pathology panel and is now able to detect additional therapy-relevant gene mutations in tumors. The diagnostic panel allows a rapid and cost-efficient examination of the most common tumor entities. The Molecular Pathology Panel has been significantly revised, following the latest scientific findings and our own insights from cancer diagnostics. […]