My Child Has Developmental Delays and No Diagnosis. What Now?
If your child has developmental delays without a clear explanation, a genetic cause could be the missing answer.
When to Suspect a Genetic Cause
Delays present from birth or early infancy. Multiple developmental domains affected. Unusual physical features. Seizures, feeding difficulties, or growth problems alongside delays. Family history of similar differences. Regression (loss of previously acquired skills).
The Testing Pathway
Chromosomal microarray (CMA): first-line, identifies cause in ~15-20%. Fragile X testing: recommended for intellectual disability or autism. Whole exome sequencing: ~30-40% diagnostic yield for unexplained delay. Whole genome sequencing: most comprehensive, catches what WES misses. Trio sequencing (child + both parents) significantly improves results.
What a Diagnosis Changes
Targeted management and surveillance. Prognosis and planning framework. Family planning with recurrence risk information. Access to disability services, IEPs, condition-specific programs. Community connection with other families. Eligibility for clinical trials and emerging therapies.
You've waited long enough for answers
Take our free 2-minute screening to see if genetic testing could help.
Take the free screening ›This article is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare provider before making medical decisions.