Gene symbol | Test method | Mutations detected | Mutation detection frequency by test method*¶ | Test availabilityΔ |
RB1 | Gross deletion/duplication analysis◊ | FISH | Submicroscopic deletions and translocations | >8% | For a list of available laboratories, please see the Genetic Testing Registry |
Heterozygosity testing | 8% |
MLPA, quantitative multiplex PCR, other methods◊ | Submicroscopic whole exon(s) deletions, insertions, and rearrangements | 16% |
Mutation scanning | Single-base substitutions, small length mutations | 70 to 75% |
Sequence analysis (genomic) |
Targeted mutation analysis | Specific panel of recurrent point mutations | 25% |
Methylation analysis | Hypermethylation of the promoter region | 10 to 12%§ |
Sequence analysis of RNA from blood | (Deep intronic) splice mutations, gross rearrangements | <5%¥ | |