Sensitivity of Mutation Testing
These sensitivity classifications allow researchers to note the level of BRCA1 and BRCA2 testing that has been performed in the non-BRCA1/2 families. In most cases only one person has been tested from a family, so the sensitivities relate to that person's tests. Where more than one person has been tested, the sensitivities relate to the most sensitive tests performed.
- Complete
- very high sequencing plus MLPA
- Very High
- full sequencing of the coding region and splice junctions by Myriad, GTG, Peter Oefner, PMCC, Flinders SA (Full), POWH (Full)
- High + MLPA
- high sensitivity screening plus MLPA
- High
- DHPLC, chemical cleavage, sequencing by any lab other than Myriad or GTG for all exons.
- High
- restriction enzyme/sequencing
- High
- a combination of methods (e.g. PTT/DHPLC/SEQ/MLPA of all exons)
- Moderate
- PTT, DGGE for all exons
- Moderate
- PTT for exon 11 but sequencing/DHPLC for all remaining exons (includes PhaseI and PhaseII PeterMac Reports)
- Low
- e.g. SSCP, or analysis of only some of the exons by any method e.g.Jewish mutations only or predictive testing.
- Low
- MLPA only