With the latest update, CeGaT has optimized the Diagnostic Panel for Skeletal Disorders to enhance both diagnostic precision and usability. The refined gene selection and restructuring of gene sets simplify test selection for physicians.
The Panel for Skeletal Disorders now comprises 332 genes. 18 genes were newly added. The number of gene sets has been reduced to 13. To simplify selection for ordering physicians, the previous gene sets SKT01-03 have been merged into a single gene set: SKT01.
Inclusion of one more RNA gene
A distinctive feature of the Panel for Skeletal Disorders is RNA genes: RMRP, RNU4ATAC, and the newly added RNU12. RNA genes stand out because they are non-protein-coding and play crucial regulatory roles in cellular processes. Conventional exome diagnostic services often fail to capture these genes. However, CeGaT’s diagnostic panels are based on ExomeXtra®, our proprietary high-quality exome enrichment, which enables the inclusion of these crucial RNA genes. This ensures a more comprehensive genetic analysis, helping to identify disease-causing variants that might otherwise be missed.
Detection of regulatory variants in non-coding regions
Beyond this, with the Panel for Skeletal Disorders, both small and large genetic variants (SNVs and CNVs) in non-coding regions are detected. For example, it captures known pathogenic regulatory variants of RBM8A as well as a recurrent promoter deletion in the newly added TXNL4A gene. Additionally, the ZRS regulatory element, located in an intronic region, is included. ZRS plays a key role in the regulation of SHH expression, and pathogenic variants in this gene are associated with three known skeletal phenotypes (as documented in OMIM, the standard reference database for genes and associated diseases).
Greater diagnostic value through the latest insights
By integrating these latest findings, the updated Diagnostic Panel for Skeletal Disorders ensures enhanced detection of disease-relevant variants, providing greater diagnostic value for physicians and patients alike.