BGI XOME™ Express

BGI XOME™ Express is a highly effective solution for the rapid diagnosis of hereditary disorders through whole-exome sequencing, with a focus on the clinical relevance of the results. Offering accelerated interpretation, this panel is designed for critical clinical cases where the speed of diagnosis is crucial.

BGI XOME™ Express uses whole exome sequencing (WES) followed by bioinformatics filtering based on the patient’s clinical phenotype (HPO terms). It provides complete coverage of exons in >20,000 genes, with the ability to detect SNVs, Indels, and CNVs.

 Clinical Indications

• Newborns and children with severe congenital anomalies
• Patients in intensive care units with an undetermined diagnosis
• Clinically undifferentiated or genetically heterogeneous syndromes
• Negative results from previous targeted panels

 Key Benefits

• Complete exome coverage: >98% exon coverage at ≥20×
• Rapid diagnosis: ideal for clinical situations where speed is critical
• Phenotype-oriented analysis: interpretation of variants in the context of symptoms
• Team of clinical geneticists: reviews results in accordance with ACMG standards
• Comprehensive report: includes potential variants requiring further verification.

BGI XOME™ Express — accelerated exome sequencing for the diagnosis of rare genetic diseases.