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. Author manuscript; available in PMC: 2023 Aug 1.
Published in final edited form as: Ophthalmol Retina. 2022 Mar 18;6(8):702–710. doi: 10.1016/j.oret.2022.03.011

Figure 2. Examination of genes included in retinal dystrophy panels offered by Blueprint Genetics, Invitae and Prevention Genetics.

Figure 2.

(A) Of the 409 unique coding regions of genes assayed across the three different retinal dystrophy panels, there are 269 genes in common including the top 20 genes known to cause over 70% of IRDs. In the Blueprint Genetics Retinal Dystrophy panel, there are 48 unique genes of which 37 are mitochondrial genes. Prevention genetics has 13 unique genes with some indicated in rare forms of RP associated with structural variants. Invitae’s panel has 25 unique genes with a subset of those implicated in oculocutaneous albinism. (B) Of the 138 non-coding variants assayed across all platforms, 98 (across 49 genes) are unique to Blueprint, 2 are unique to Invitae in the gene PPT, whereas 7 (across 4 genes) are unique to Prevention Genetics, reflected in the proportionate Venn diagram. There is 1 variant in common between Blueprint Genetics and Invitae in the gene CEP290 and Blueprint and Prevention Genetics have 30 non-coding variants in common across 6 genes. The plot shows the number of non-coding variants in the targeted genes, with ABCA4 having the most variants.