BACKGROUND: Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically. Targeted disease specific gene panel massively parallel sequencing (MPS) seems to be a useful tool in diagnosis of disorders with high genetic heterogeneity. METHODS: In our study, we have designed, validated and updated our own custom gene panel of all known genes associated with IPN. One hundred and ninety-eight patients have been tested so far. Only patients in whom mutations in more common causes or relevant genes have already been excluded were enrolled. Five consecutive panel designs were prepared according to recent literature search, the last one covering ninety-three genes. Each patient was tested only once. All data were evaluated with at least two different pipelines. RESULTS: In summary, causative mutation has been found in fifty-one patients (26 %). The results were inconclusive in thirty-one (16 %) patients. No variants of likely significance to IPN were found in one hundred and sixteen (58 %) patients. CONCLUSION: MPS gene panel enables testing of all known IPN causes at once with high coverage and at an affordable cost making it truly a method of choice also in IPN. Gene panel testing results in several interesting results and findings.

• Klíčová slova
• Charcot-Marie-Tooth, Inherited peripheral neuropathies, Mutation, Phenotype, Targeted gene panel testing,
• MeSH
• Charcotova-Marieova-Toothova nemoc diagnóza   genetika   MeSH
• cytoplazmatické dyneiny genetika   MeSH
• DNA-helikasy MeSH
• genetické testování metody   MeSH
• genotyp MeSH
• hereditární motorické a senzitivní neuropatie genetika   MeSH
• intracelulární signální peptidy a proteiny genetika   MeSH
• konexiny genetika   MeSH
• lidé MeSH
• multifunkční enzymy MeSH
• mutace MeSH
• nemoci periferního nervového systému diagnóza   genetika   MeSH
• protein beta 1 mezerového spoje MeSH
• proteiny buněčného cyklu genetika   MeSH
• RNA-helikasy genetika   MeSH
• věk při počátku nemoci MeSH
• vysoce účinné nukleotidové sekvenování metody   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• cytoplazmatické dyneiny MeSH
• DNA-helikasy MeSH
• DYNC1H1 protein, human MeSH Prohlížeč
• intracelulární signální peptidy a proteiny MeSH
• konexiny MeSH
• multifunkční enzymy MeSH
• N-myc downstream-regulated gene 1 protein MeSH Prohlížeč
• proteiny buněčného cyklu MeSH
• RNA-helikasy MeSH
• SETX protein, human MeSH Prohlížeč