Tests and solutions
This section translates the flyer materials into a structured website experience for clinicians, hospitals, geneticists, and families. Each pathway highlights what it is, who it suits, and how quickly results are expected.
Genetic exome sequencing for fast identification of top variants using BGI's automated variant analysis pipeline.
Whole exome sequencing across 180,000+ exons and 22,000 genes for rare genetic disorders and unclear clinical genotypes.
Targeted sequencing for monogenic disease assessment with clinically directed scope for patients or families with a strong suspected diagnosis.
Targeted sequencing of over 5,000 disease types across 10 body systems in conjunction with clinical presentation and disease progression markers.
Add-on validation service supporting monogenic disease workflows when copy number variation confirmation is required.
Add-on mutation validation service supporting monogenic disease testing pathways and confirmation workflows.
Sanger sequencing test for 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia with CYP21A2 gene focus.
Whole genome sequencing with broad coverage across coding and non-coding regions, mitochondrial variants, CNVs, structural variants, and more.
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