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K Ras Unusual results

This document discusses the criteria for identifying mutations in genetic samples, focusing on the changes observed in peak readings during analysis. Specifically, it highlights the significance of a decrease in the GG peak and an increase in another peak to call a mutation positive. The report covers cases involving complex rearrangements and specific mutations such as Codon 12/13 alterations. Moreover, it reports on the confirmation of mutations using Real-Time PCR with the DCX kit, presenting insights into typical patterns of mutation calls and unusual findings across various samples.

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K Ras Unusual results

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  1. K Ras Unusual results Linda Meredith 29th Sept 2009

  2. Mutation calling criteria • Criteria for calling a mutation positive is the fall in one peak usually the GG peak and increase in another peak. • GG peaks often compared against each other for reference

  3. Complex rearrangement Codon 12/13 c.36T>A [Gly12Gly] 9M1460 c.38G>C [Gly13Ala] c.40G>T?? Mutant called G>A?? A↑ T↓ G↓ C↑ G↓ A↓ Normal

  4. Two mutations in 1 sample 9M4761 Both GG peaks decreased Confirmed by Real time PCR DCX kit Normal

  5. Unusual mutation c.159G>T p.59 9M3983 Mutation G↓ T↑ Normal

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