Analysis step | Diagnostic results | Inconclusive results |
---|---|---|
Step 1 (Genotype-driven) | 187/1618 (11.6%) | 55/1618 (3.4%) |
Step 2 (Genotype-Phenotype correlation based on initial invasive indications) | 28/1618 (1.7%) | 68/1618 (4.2%) |
19 due to genotype-phenotype correlations | ||
9 due to family co-segregation | ||
Step 3 (Reanalysis due to new phenotypes or physician’s requests) | 14/1618 (0.9%) | 8/1618 (0.5%) |
1 due to new phenotypes upgrading from VUS to LP | ||
7 due to new phenotypes reclassified from IFs to positive diagnoses | ||
3 due to new disease genes identified | ||
2 with intragenic copy number variants | ||
1 with focused Sanger analysis for a disease gene possessing pseudogene sequence | ||
Total | 229/1618 (14.2%) | 131/1618 (8.1%) |