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Structured diagnostic workup algorithms, variant interpretation frameworks, and evidence-based testing protocols across the full spectrum of heritable disease.
Structured, evidence-based approaches that transform complex clinical presentations into defined molecular workups. Each algorithm maps phenotype to genotype through validated decision trees.
Systematic evaluation frameworks for undiagnosed patients. From initial phenotyping and differential diagnosis through tiered genetic testing, including reflex to exome/genome sequencing when targeted panels are non-diagnostic.
Applied frameworks for classifying sequence variants according to ACMG/AMP 2015 guidelines with ClinGen refinements. Population frequency analysis, functional data integration, segregation studies, and computational predictions.
Structured family-based testing strategies for identified pathogenic variants. Risk stratification of at-risk relatives, age-appropriate screening initiation, and integration with reproductive planning and genetic counseling.
Decision algorithms matching clinical findings to optimal test modality. Single-gene analysis, targeted panels, exome sequencing, genome sequencing, chromosomal microarray, or methylation analysis based on presentation specificity.
The quantitative foundation underlying every diagnostic algorithm and testing protocol.
The ACMG/AMP five-tier classification system provides a standardized framework for evaluating sequence variant pathogenicity. Each classification integrates population data, computational predictions, functional studies, and segregation analysis to assign clinical significance.
VUS management remains the central challenge of clinical molecular genetics. Systematic approaches include periodic reclassification review, functional studies when available, family segregation analysis, and integration with evolving ClinGen expert panel assertions.
Tools and frameworks built for the daily practice of clinical genetics. From initial referral triage through molecular diagnosis and long-term management.
Phenotype-to-genotype decision trees for 20 organ systems, with tiered testing strategies from targeted panels through genome sequencing.
ACMG/AMP variant classification applied in context. ClinGen-curated gene-disease associations, variant curation standards, and VUS management protocols.
Evidence-based criteria for when to refer to genetics. Red flags by specialty, pre-test probability thresholds, and urgency triage frameworks for NICU/PICU settings.
Guidance on selecting the appropriate laboratory and test modality. Panel composition analysis, turnaround time considerations, and insurance navigation for genetic testing.
Published diagnostic yield across all 20 organ systems. Tier 1 strong-evidence systems (42–95%) through Tier 2 moderate-evidence specialties with evolving data.
rGS/rES implementation guides for critically ill neonates and pediatric ICU patients. 34–59% diagnostic yield with documented management changes in 80% of diagnosed cases.