Table 3 of Furgoch, Mol Vis 2014; 20:535-544.

Table 3. Summary of the capabilities of molecular genetic diagnostic tools on choroideremia patients and carriers.

Male Female
Immunoblot Genomic sequencing RNA (cDNA) sequencing MLPA Genomic sequencing MLPA
Base Pair changes Transition / transversion
Small deletion
Small insertion
Large changes Large deletion
Large insertion
Exon copy number
Splice variants
Protein presence