Table 3 Diagnostic yield and changes to management following diagnosis.
Historical cohort N = 91 | Prospective cohort N = 92 | P value | |
|---|---|---|---|
Molecular diagnosis confirmed (%) | 21 (23%) | 39 (42%) | 0.003 |
Mean days to diagnosis (from date of tertiary presentation to date of genetic test report issue) | 1046 | 423 | <0.0001 |
Total patients experiencing management change | 7 (8% of total cohort, 33% of diagnosed patients) | 29 (32% of total cohort, 74% of diagnosed patients) | <0.001 |
Treatment started | 1 | 4 | |
Treatment ceased | 0 | 1 | |
Redirection to palliative care | 2 | 1 | |
Surveillance commenced | 4 | 21 | |
Surveillance ceased | 0 | 2 | |
Low recurrence risk established | 14 | 28 | |
High (25% or 50%) recurrence risk established | 7 | 12 | |
Cascade testing in family member | 0 | 5 | |
Invasive investigations | 134 | 31 | |
MRI under GA | 37 | 0 | |
Tissue biopsy under GA | 21 | 9 | |
Tissue biopsy no GA | 10 | 1 | |
Bone marrow biopsy | 8 | 0 | |
Lumbar puncture | 21 | 15 | |
EMG | 3 | 0 | |
NCS | 9 | 3 | |
ERG | 5 | 0 | |
EUA | 12 | 2 | |
Endoscopy | 4 | 1 | |
Postmortem examination | 4 | 0 |
