The diagnostic performance in this study was evaluated by calculating the mutation detection rate as a percentage of mutations detected for the cohort of 12 patients with 24 known mutations, and by calculating the diagnostic yield as the percentage of patients for which a molecular diagnosis was obtained (for details, see Results).
Analysis of the ability of this microarray to detect known gene mutations has shown a 97% mutation detection rate for base substitutions.
The mutation detection rate for patients who fulfilled the Ghent criteria reached 71%.
In the test group, we identified mutations in 71 of 74 alleles, with a mutation detection rate of 95.9%.
LNA-PCR sequencing confirmed all 51 PIK3CA mutations; however, the mutation detection rate by standard Sanger sequencing was only 69% (35 of 51).
However, a recent study indicated that a targeted mutation detection rate is approximately 27.7% in CTCs from pancreatic cancer compared with bulk cells but is negative in white blood cells [86].
(The mutation detection rate for DMD patients from this institution is 97% indicating that there is negligible bias in patient selection based on the availability of mutation data).
A perfect mutation detection rate is reported for both.
Therefore, the mutation detection rate for the microarray was 43.5%.
The mutation detection rate decreased as the age at onset of NS increased.
The increased number of genes tested led to a higher mutation detection rate.
