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BGI XOME™ Express

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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 th...

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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.

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