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![Gene dosage defects in primary immunodeficiencies and related disorders: a pilot study](https://image.oaes.cc/ce5b6010-58fa-407e-97b1-803926376ef3/2333.fig.1.png)
Figure 1. CNV testing algorithm for Mendelian disorders. The diagram demonstrates the diagnostic work-up of a Mendelian disorder using next generation sequencing as the first step followed by deletion/duplication testing to find an allele or second allele. CNV: copy number variant; NGS: next-generation sequencing