Table 2

Case 4 genotyping errors and methods used

ErrorMethodsNumber of laboratories
No mutation detected at codon 600Pyrosequencing2
Roche cobas1
p.(Val600Glu) reportedPyrosequencing3
Real time PCR2
Sanger sequencing1
Mass spectrometry1
High resolution melt analysis and Sanger sequencing1
High resolution melt analysis and SNaPShot analysis1
Real time PCR, Sanger sequencing and Entrogen kit1
Incomplete test performed—see textQiagen RGQ PCR kit1