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Medical Genetics

Whole Exome Sequencing

全外显子组测序

Duration

3-6 weeks for results

Recovery

No recovery needed (blood draw only)

$

Savings

~71% vs US

Price Comparison
China$500 - $1,500
$1,000
United States$2,000 - $5,000
$3,500
Save approximately 71%

Average savings compared to US prices

About This Treatment

Advanced genetic testing that sequences all protein-coding regions of the genome to identify disease-causing mutations. China's genomics laboratories offer clinical-grade whole exome sequencing with comprehensive bioinformatics analysis at significantly lower cost than Western labs. Particularly valuable for undiagnosed genetic conditions, developmental delays, and rare diseases.

Procedure Steps
1

Genetic Counseling

Pre-test counseling explaining scope, limitations, and potential findings including incidental results and implications for family.

Duration: 1 hour
2

Sample Collection

Blood draw for DNA extraction, with parental samples collected for trio analysis if applicable.

Duration: 30 minutes
3

Sequencing and Analysis

Next-generation sequencing of all exonic regions with bioinformatics pipeline for variant calling and annotation.

Duration: 3-5 weeks
4

Results Interpretation

Geneticist review of identified variants, clinical correlation, and detailed report with genetic counseling session.

Duration: 1-2 hours
Benefits
  • Comprehensive screening of 20,000+ genes in single test
  • Trio analysis with parents significantly improves diagnostic yield
  • China's large genomic databases enhance variant interpretation
  • 40-60% cost savings compared to equivalent Western testing
Considerations
  • Variants of uncertain significance may create diagnostic ambiguity
  • Incidental findings may reveal unexpected health risks
  • Negative results do not exclude genetic conditions
  • Turnaround time of several weeks required for analysis

Prices shown are approximate ranges for reference only. Actual costs vary by hospital, complexity, and individual patient needs. Always consult with healthcare professionals for medical decisions.