Mutations in BRCA1 and BRCA2 genes are the main cause of genomic instability, but beyond that, several other causes like other genes involved in the homologous recombination pathway or BRCA1 promoter methylation can result in HR deficiency. However, many causes have yet to be identified. myChoice HRD is the most comprehensive tumor test to determine Read More
Major fetal structural anomalies occur in approximately 2 – 4% of all pregnancies. Thanks to major advancements in emerging genetic technologies over the last decades, prenatal diagnostics are now more accessible and accurate than ever before. Join CENTOGENE’s Dr. Peter Bauer, Chief Genomic Officer (CGO), and Dr. Maximilian Schmid, Chief Commercial Officer (CCO) Diagnostics, as Read More
CENTOGENE’s Medical Genetic Liaison Kriti Menon will provide an overview of WGS, literature-based evidence, its advantages & limitations, and the relevance of research variants & data re-evaluation. At the end of the webinar, she will share different clinical cases studies and lessons learned.
Until now, a common industry approach for testing HLA-A 31:01 (tag SNP rs1061235) has produced a high false positive rate of approximately 40%. Without separate verification, this could have the clinical outcome of inappropriately excluding the use of a valuable drug, carbamazepine which is associated with a 5-fold increased incidence in hypersensitivity reactions in the presence of this allele.
Mark your calendars for 13 January (Wednesday) for our next case study webinar, ‘The Role of CNVs in Increasing the Diagnostic Yield of WES.’