-
Bianzhen is a genetic testing product that focuses on precise molecular diagnosis of epilepsy. It includes two series: (1) Panel 2000× package, (2) WES Plus package. Its research and development is based on independent research and development database, using international authoritative data , Combined with second-generation sequencing technology, comprehensively screen epilepsy-related genes, provide genetic basis for the clear diagnosis of epilepsy risk populations and patients with epilepsy, and establish a new model of individualized medical treatment.
Among them, the Panel 2000× package can detect 876 epilepsy-related genes, 23 epilepsy hotspot copy number variants (CNVs), mosaics, and mitochondrial genomes. The average sequencing depth is up to 2000×, and the average sequencing depth of mitochondrial genomes is 10,000×. Chimeric mutations with a synergy rate as low as 1%.
-
The WES Plus package comprehensively covers all exons, 23 epilepsy-related hotspot CNVs, mitochondrial genomes, and includes the clinically significant mutation sites in the non-exon regions included in the latest ClinVar database. Covers all pathogenic genes related to epilepsy, with a coverage area of up to 43.2Mb, a sequencing data volume of 20G, an average sequencing depth of 200×-300×, and a mitochondrial genome sequencing depth of up to 10,000×, thereby significantly improving the detection rate of mutations .
Based on guidelines issued by authoritative organizations such as the International Anti-Epilepsy Alliance (ILAE), the Chinese Anti-Epilepsy Association (CAAE), and the American Academy of Medical Genetics and Genomics (ACMG) and the OMIM database, PubMed literature database, ClinVar mutation database, HGMD mutation database, ClinGen gene database and other internationally recognized authoritative databases and literature materials, one-time, comprehensive detection of epilepsy-related genes, mitochondrial genome, copy number variation and clinically significant non-exon regions, etc., to provide clinicians and patients with more optimized assistance Diagnostic tools. So as to assist clinical diagnosis, assess genetic risk and provide medication recommendations.
Panel 2000:Deep sequencing, higher detection rate and more accurate results; detection rate of low-frequency chimerism>99.99%
WES Plus:The locus coverage is wider, and the detection rate is higher; in addition to all exons, it can also detect non-exon region variant sites;