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
full sequencing by Myriad, or GTG or Oefner, plus MLPA
Very High
full sequencing by Myriad, or GTG or Oefner
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
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