Tests and solutions
Choose the XOME pathway that fits the clinical question.
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.
Rapid exome serviceTAT 15 working days
XOME Express (Trio)
Genetic exome sequencing for fast identification of top variants using BGI's automated variant analysis pipeline.
Suitable for
- Institutes with in-house genetic analysis capability
- Hospitals with high demand for time efficiency
- Families requiring up to 3 related individuals in one submission
Highlights
- Fast-track analysis
- Trio support
- Top-variant reporting
Comprehensive exomeTAT 25 working days
Whole Exome Sequencing (cWES Trio)
Whole exome sequencing across 180,000+ exons and 22,000 genes for rare genetic disorders and unclear clinical genotypes.
Suitable for
- Individuals suspected with rare genetic disorders
- Cases with unclear clinical genotypes
- Patients who previously received negative results from traditional panels
Highlights
- 180,000+ exons
- 22,000 genes
- Up to 3 related individuals
Focused monogenic panelTAT 25 working days
Monogenic Disease Testing (1–9 genes)
Targeted sequencing for monogenic disease assessment with clinically directed scope for patients or families with a strong suspected diagnosis.
Suitable for
- Individuals suspected with a monogenic disease
- Families with monogenic disease history
- Clinicians seeking a focused first-line gene test
Highlights
- Focused gene selection
- Clinical phenotype alignment
- Family history use cases
Expanded monogenic panelTAT 25 working days
Monogenic Disease Testing (200+ genes)
Targeted sequencing of over 5,000 disease types across 10 body systems in conjunction with clinical presentation and disease progression markers.
Suitable for
- Individuals suspected with a monogenic disease
- Patients with relevant family history
- Cases requiring broader panel coverage before exome or genome escalation
Highlights
- 200+ genes
- 5,000+ disease types
- 10 human body systems
Validation serviceTAT 15 working days
CNV Validation
Add-on validation service supporting monogenic disease workflows when copy number variation confirmation is required.
Suitable for
- Monogenic disease workups requiring CNV confirmation
- Follow-up validation after primary sequencing
Highlights
- Add-on service
- CNV confirmation
- Streamlined turnaround
Validation serviceTAT 15 working days
Mutation Validation
Add-on mutation validation service supporting monogenic disease testing pathways and confirmation workflows.
Suitable for
- Monogenic disease cases requiring confirmation
- Secondary validation before clinical interpretation
Highlights
- Add-on service
- Mutation confirmation
- Clinical workflow support
Condition-specific testingTAT 35 working days
21-Hydroxylase Deficient Congenital Adrenal Hyperplasia
Sanger sequencing test for 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia with CYP21A2 gene focus.
Suitable for
- Individuals suspected for 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia
- Condition-directed confirmatory workflows
Highlights
- CYP21A2 gene focus
- Sanger sequencing
- Condition-specific pathway
Comprehensive genomeTAT Up to 30 days
Clinical Whole Genome Sequencing (cWGS)
Whole genome sequencing with broad coverage across coding and non-coding regions, mitochondrial variants, CNVs, structural variants, and more.
Suitable for
- Suspected genetic disorders requiring a comprehensive first-line investigation
- Undiagnosed complex cases with suspected genetic origin
- Families seeking reproductive guidance after molecular diagnosis
Highlights
- >40X deduplicated depth
- SNV/Indel/CNV/SV coverage
- Individual and Trio options
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.
