Clinical Whole Genome Sequencing for the most comprehensive diagnosis.
When monogenetic diseases present with complicated or combined phenotypes, cWGS analyses the entire human genome in a single workflow — reaching a higher possibility of a clear molecular diagnosis than exome or panel-based approaches.
Clinical scope
What clinical challenges does cWGS target?
Hereditary diseases can be caused by single-gene mutations, mutations across multiple genes, gene–environment interactions, or chromosomal damage. Each conventional methodology — Sanger, CMA, CNV-seq, exome — captures only a portion of the variant landscape. cWGS delivers the most comprehensive overview in a single test.
A patient with abnormal clinical manifestations suspected to be caused by hereditary diseases.
A patient who has a family history of monogenic diseases.
A couple who have experienced a previous miscarriage without a clear diagnosis.
Important features
One test, the full variant catalogue.
Simultaneous analysis of over 22,000 human genes, including 4,900+ known disease-causing genes from OMIM and 6,400+ single-gene disorders, with phenotype-focused interpretation.
Variant types — official report
Variant types — supplementary report
| Product Name | XOME™ Clinical Whole Genome Sequencing (cWGS) |
|---|---|
| Gene numbers | Over 22,000 protein coding genes |
| Sequencing range | Whole genome |
| Sequencing depth | ≥40X |
| 20X coverage | ≥90% |
| Sample type | Peripheral blood / Genomic DNA / Amniotic fluid (Trio) |
| Turnaround time | 30 working days |
| Delivery location | Hong Kong – Shenzhen |
Note: Amniotic fluid samples must be submitted alongside parental samples for trio analysis. TAT is calculated from Hong Kong centre sample acceptance to Shenzhen laboratory report release.
Why choose cWGS
Comprehensive, accurate, and safe.
Accurate
Mean depth of BGI-XOME cWGS is over 40X, with 20X coverage ≥90% across the genome.
Comprehensive
Detects point mutations, indels, CNVs, mitochondrial variations, LOH, translocations, inversions, and dynamic mutations across all 3 billion base pairs and 22,000+ protein-coding genes in a single test.
Multiple sample types
Accepts saliva, peripheral blood, genomic DNA, and amniotic fluid for trio investigations.
Safe
A safe, non-invasive method for comprehensive genetic analysis of the entire genome.
Service process
From physician order to report.
FAQ
Frequently asked questions
Eligibility, turnaround time, and sample requirements for XOME cWGS.
Speak with the team
Get the right XOME pathway for your patient, family, or service line.
Call geneticlab directly for service access, logistics, and next-step guidance.