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 •

The • indicates the general ability of the assay to detect a particular type of mutation. Exceptional cases discussed in the text. When referring to Genomic sequencing, mutations can only be detected within the exons and at the exon-intron boundary. cDNA sequencing will only detect mutations in the open reading frame.

Furgoch, Mol Vis 2014; 20:535-544. http://www.molvis.org/molvis/v20/535

©2014 Molecular Vision http://www.molvis.org/molvis/

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