- In March 2024, Invitae Corporation, a leader in genetic testing, announced the expansion of its Cat Eye Syndrome (CES) diagnostic panel to include advanced Fluorescence in Situ Hybridization (FISH) and chromosomal microarray testing. This enhancement improves early and accurate diagnosis, facilitating better clinical management of patients with CES. Invitae’s efforts underscore the growing importance of comprehensive genetic testing in rare chromosomal disorders
- In February 2024, Thermo Fisher Scientific launched a novel FISH probe kit specifically designed for cat eye syndrome detection. This product aims to offer higher sensitivity and specificity, reducing diagnostic turnaround times in clinical cytogenetics laboratories globally. The development highlights the trend toward precision diagnostics in genetic disorders
- In January 2024, the Rare Disease Foundation announced a global collaboration with several hospitals and research institutes to improve CES patient registries and data sharing. This initiative supports better epidemiological tracking, facilitates clinical trials, and accelerates therapeutic advancements for CES
- In December 2023, Centogene AG, a global rare disease company, published new clinical data supporting the efficacy of early intervention therapies in managing CES symptoms, reinforcing the value of timely diagnosis and personalized treatment approaches
- In November 2023, Bionano Genomics incorporated cat eye syndrome detection capabilities into its optical genome mapping platform, enabling more comprehensive chromosomal anomaly analysis in patients suspected of CES. This technological integration is expected to improve diagnostic accuracy and speed
