Abstract
Background: Charcot-Marie-Tooth Disease (CMT) is one of the most common inherited neurological diseases. Today, more than 70 CMT related genes are known to cause inherited neuropathy. The diagnostic strategy in most laboratories is based on Sanger-sequencing of few genes. In our patient cohort, Sanger sequencing of 4 genes have led to a diagnosis in approximately 30% of the patients.
Aims: 1) Development of a targeted NGS platform containing 63 genes that currently are found to be associated with CMT. 2) Analysis of the increased diagnostic yield using this platform to analyze 200 CMT samples previously analyzed using Sanger sequencing without identification of a disease causing mutation.
Materials and Methods: Libraries for 200 patient samples obtained for CMT diagnostics were prepared using Illumina Truseq and target enrichment using SeqCap EZ Choise Library (Nimblegen). The libraries were sequenced on a Hiseq2000. Data analysis was performed using CLC Genomics Workbench v7.0.3.
Results and Conclusion: Preliminary results indicate an increased diagnostic yield when analyzing 63 CMT associated genes compared to previous Sanger sequencing of 4 genes. The introduction of NGS in CMT diagnostics significantly improves the current practice.
Aims: 1) Development of a targeted NGS platform containing 63 genes that currently are found to be associated with CMT. 2) Analysis of the increased diagnostic yield using this platform to analyze 200 CMT samples previously analyzed using Sanger sequencing without identification of a disease causing mutation.
Materials and Methods: Libraries for 200 patient samples obtained for CMT diagnostics were prepared using Illumina Truseq and target enrichment using SeqCap EZ Choise Library (Nimblegen). The libraries were sequenced on a Hiseq2000. Data analysis was performed using CLC Genomics Workbench v7.0.3.
Results and Conclusion: Preliminary results indicate an increased diagnostic yield when analyzing 63 CMT associated genes compared to previous Sanger sequencing of 4 genes. The introduction of NGS in CMT diagnostics significantly improves the current practice.
| Original language | English |
|---|---|
| Publication date | 19 May 2014 |
| Publication status | Published - 19 May 2014 |
| Event | Next Generation Sequencing Data Congress - London, United Kingdom Duration: 19 May 2014 → 20 May 2014 |
Conference
| Conference | Next Generation Sequencing Data Congress |
|---|---|
| Country/Territory | United Kingdom |
| City | London |
| Period | 19/05/2014 → 20/05/2014 |