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If Ctmut > 38 and/or Ctrf > 35, the software classifies the gDNA sample as mutation not detected; the sample is either mutation negative, or below the limit of detection for the TaqMan® Mutation Detection Assays.
"If there is a technique that can detect a mutation not detected by our test, we are not stopping anyone from getting that test done," says Greg Critchfield, president of Myriad Genetic Laboratories.
CI, confidence interval; MD, mutation detected; MND, mutation not detected.
This specimen was called "mutation not detected" by Sanger sequencing, cobas EGFR test lot 2, and MPP.
Two specimens designated "mutation not detected" by Sanger were detected by MPP (exon 19 deletion, exon 20 insertion).
A report is generated automatically and results can be distinguished between "mutation detected" and "mutation not detected".
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Thus mutations not detected by LiPA.
For the Fluidigm panel, one of the mutations not detected was in FGFR3 exon 7.
The exceptional mutations not detected by sequencing include large scale deletions, insertions, inversions, or complex rearrangements and mutations within the regulatory regions or introns of the gene.
New viral mutations, not detected during previous epidemics, were detected during this outbreak and may thus be related to the more aggressive clinical progression of the infection [ 1].
We performed a very limited evaluation of the potential false negative rate (i.e. BRCA mutations not detected by the NGS assay).
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