We have demonstrated on specific examples, that the APEX method is applicable for designing reliable, high-throughput and affordable genotyp-ing tools for medical genetics. These arrays allow efficient detection of all known genetic variation underlying pathology in a gene or a group of genes. APEX arrays are especially useful in the following applications:

(i) They can be efficiently applied in an average academic laboratory with a limited budget, since they require only a relatively moderate investment.

(ii) They are cost-effective in situations where a few hundred SNPs have to be screened in several hundreds to several thousands of patients.

(iii) They are irreplaceable in precise diagnostic applications, where every known mutation, including deletions, insertions, and so on, has to be detected by an assay.

Diagnostic tools, similar to the ABCR400 and LCA arrays, should be made available for all genes involved in the entire range of eye diseases. For example, an array for retinitis pigmentosa, including the entire genetic variation in more than 30 known RP loci, would substantially enhance our diagnostic capabilities. More importantly, it would allow a precise determination of the causal genetic defect(s) hopefully followed by the suggestion of a therapeutic option in the very near future.

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