Abstract

Background and Aims

The use and utility of targeted gene panels for diagnosing the type of CMT have grown rapidly because commercial gene panels that contain most of the relevant genes are available and affordable for many patients.

Methods

We used a targeted gene panel to analyze 175 patients who had an unexplained axonal polyneuropathy affecting large myelinated axons, 86 of whom reported a family history of neuropathy, and 89 of whom did not.

Results

In patients reporting a family history, the panel identified a pathogenic variant causing the neuropathy in 6 cases (7%); in patients not reporting a family history, the gene panel identified pathogenic variants causing neuropathy in 2 patients (2%).

Interpretation

Interpretation In a tertiary referral setting, current gene panels identify the genetic cause of neuropathy in a small minority of patients who have an unexplained axonal neuropathy, even in those reporting a family history.

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