Genomic testing
Trio sequencing: what parental samples add to interpretation
Family sequencing can clarify inheritance and reduce the candidate list, while leaving important limits around mosaicism and clinical causality.
Genomic testing
Genomic testing
Pseudogene interference: establish which DNA your assay measured
CYP21A2 illustrates how similar DNA sequences and complex gene structures challenge genetic analysis—and why research methods need locus-specific validation.
Genomic testing
What makes a genetic result clinically actionable?
Finding a DNA change is only part of the question. Clinical actionability asks whether reliable evidence supports a useful response to that finding.