Summary
The yield of genetic testing in patients with hereditary neuropathy (HN) has not consistently included the mitochondrial genome (MG). To address this, we performed a retrospective review of 661 reports from individuals suspected of having HN who had multi-gene panel testing (MGPT) at Blueprint Genetics. One of every four patients had an informative result in one of 40 different genes with PMP22, GJB1, MFN2, MPZ, SH3TC2, HINT1, and NEFL being the most frequent. CNVs in PMP22 were responsible for 95.1% of all CNVs. Of the 136 patients who had the MG included, none had a variant identified in the MG. These data demonstrate the value of using MGPT for individuals with suspected HN as 33.7% of informative results were due to variants in rarer HN genes. In addition, it is important that CNV analysis is panel-wide and not limited to PMP22 only. Further analysis of a larger group of patients is needed to understand the contribution of the MG to this population.
Authors:
Kim Gall, Allison Sluyters, Kirsi Alakurtti, Mònica Segura Castell, Åsa Hagström, Heli Kuisma, Julie Hathaway, Alicia Scocchia, Victoria Howell, Mikko Muona, Inka Saarinen, Pertteli Salmenperä, Eija Seppälä, Lotta Koskinen, Juha Koskenvuo
Presented at CACG, 2025
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