Diagnóstico de Doenças Genéticas Raras

What is Trio Whole Exome Sequencing?

Whole exome sequencing of the affected child plus both unaffected parents (trio analysis) is the most powerful diagnostic test for unsolved rare disease. Family-based filtering identifies de novo mutations, recessive disorders, and X-linked conditions efficiently.

Why China?

• Cost (trio): $800-$2,000 vs. $5,000-$10,000 in the US
• Major labs: BGI, KingMed, Cipher Gene — internationally accredited
• Rapid turnaround: Standard 4-6 weeks; rapid 7-14 days available for critical neonatal cases
• Pediatric genetics expertise: Shanghai Children's, Beijing Children's with dedicated genetics teams

Who is a candidate?

• Children with unexplained developmental delay/intellectual disability
• Multiple congenital anomalies
• Suspected genetic disease without targeted gene
• Critically ill neonates with unexplained presentation (rapid WES)
• Refractory epilepsy
• Failed targeted gene panels or microarrays

Outcomes

Diagnostic yield: 25-40% (varies by phenotype). For neonatal critical cases: 30-60% diagnostic. Reanalysis at 1-2 years adds another 10-15% diagnoses. Therapeutic implications: 25-40% of diagnoses lead to management changes.