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- Performing EGFR mutation testing
Screening and targeted EGFR mutation testing technologies
A wide choice of techniques can be used for mutation detection. The techniques fall into two categories
• Only mutations assayed for may be detected – therefore less time consuming
• Sensitivity tends to be higher than screening technologies
Disadvantages
• Mutations not assayed for may be missed
• Reagents may be more expensive
Next: Detecting a mutation
• Screening technologies that detect all EGFR mutations including novel mutations
• Targeted technologies that detect specific known EGFR mutations
The table below shows which method belongs to each of these categories:
| METHOD | Mutation Screening Technology: Samples are screened for all EGFR mutations, known and novel variants | Targeted Mutation Detection: Samples are analysed for known EGFR mutations only |
| PCR/Sequencing | ✓ | |
Nested PCR/Sequencing | ✓ | |
| PCR/HRMA/dHPLC (Melt Analysis) | ✓ | |
| Pyrosequencing | ✓ | |
| ARMS | ✓ | |
PNA/LNA Clamp | ✓ | |
| SNAPSHOT | ✓ | |
| PCR/Fluorescent RFLP | ✓ | |
| ME PCR/Sequencing | ✓ | |
| PCR Invader | ✓ |
(Kimura 2006. Eberhard 2008, Board 2008, Ogino 2005)
Gene mutation screening technologies
Advantages
• All mutations, including novel mutations may be detected
• Technology is available in many molecular genetics labs
Disadvantages
• Sensitivity tends to be lower than targeted methods
• Experienced operators needed
• Tends to be more labour intensive
Gene mutation targeted technologies
Advantages• Only mutations assayed for may be detected – therefore less time consuming
• Sensitivity tends to be higher than screening technologies
Disadvantages
• Mutations not assayed for may be missed
• Reagents may be more expensive
Next: Detecting a mutation