https://www.cegat.de/web/wp-content/uploads/2019/07/admin-ajax2.jpg225400Ítalo Bacchiegahttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim.pngÍtalo Bacchiega2019-10-14 10:46:392019-10-14 10:47:26Novel MECP2 Mutation c.1162_1172del p.Pro388 in Two Patients with Symptoms of Atypical Rett Syndrome.
https://www.cegat.de/web/wp-content/uploads/2018/12/Publikations-Keyvisual-V3.jpg10801920Alexander Borsthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim.pngAlexander Borst2019-10-08 11:16:262019-10-08 11:16:26Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
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 […]
https://www.cegat.de/web/wp-content/uploads/2019/10/VUS-Re-Evaluirung-BW-WEB.jpg10801920Nora Zellerhttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim.pngNora Zeller2019-10-01 14:06:012019-10-25 12:33:55CeGaT Introduces Regular Re-evaluation of Variants of Uncertain Significance (VUS)
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. […]
https://www.cegat.de/web/wp-content/uploads/2019/09/Tumor-blank-WEB.jpg10801920Nora Zellerhttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim.pngNora Zeller2019-09-24 14:55:502019-09-24 14:55:50Update of the Molecular Pathology Panel for Cancer Diagnostics
Novel MECP2 Mutation c.1162_1172del p.Pro388 in Two Patients with Symptoms of Atypical Rett Syndrome.
/in Publications /by Ítalo BacchiegaOphthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
/in Publications /by Alexander BorstCeGaT Introduces Regular Re-evaluation of Variants of Uncertain Significance (VUS)
/in Diagnostics /by Nora ZellerCeGaT’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
/in Diagnostic Panels /by Nora ZellerCeGaT 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. […]
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
/in Publications /by Alexander Borst