Summary

Standard gene panel tests may miss clinically relevant structural variants (SVs), which include deletions, duplications, insertions (eg, retrotransposable elements [RTEs]), and other complex rearrangements. In this study, we evaluated the benefit of using an internally developed read breakpoint analysis method to detect SVs in ophthalmology gene panel testing. Key findings included the following 

• Out of 22,280 patients, 106 SVs (49 unique) were detected, all in IRD-related genes 

• Of these, 81 (76%) SVs contributed to positive findings, and 25 (24%) were additional findings

• SVs were identified in a total of 31 different genes

• SVs accounted for 0.7% of positive results, with Alu insertions being the most common SV type, especially in the MAK and RP1 genes

This study concludes that incorporating advanced SV detection methods into standard IRD gene panel testing may increases diagnostic yield by identifying clinically relevant SVs that standard methods may miss. 

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Authors:

Iker Sanchez-Navarro, Margarita Andreevskaya, Kati Kämpjärvi, Pernilla von Nandelstadh, Ka Yan Mak, Sonia Casanovas Palau, Brenda Valeiras, Terhi Ahvenainen, Johanna Känsäkoski, Mikko Muona, Lotta Koskinen, Tuuli Pietilä, Janica Djupsjöbacka, Ville Kytölä, Miko Valori, Samuel Myllykangas, Pertteli Salmenperä, Sari Tuupanen, Juha Koskenvuo