Analysis of all known genes associated with genetic neuromuscular diseases.
Panel diagnostics: The panel for genetic neuromuscular diseases covers 378 genes. All these genes are sequenced simultaneously, as part of the CeGaT Exome Xtra. We interpret all genes associated with the patient’s phenotype, referred to as a gene set. Additionally, mtDNA is part of the enrichment.
Maximize diagnostic options: Each gene set can be requested individually or in combination with other gene sets. It’s also possible to select a custom combination of genes (Custom Panel). Click here to view our gene sets.
Extensive medical reporting: The interpretation includes single nucleotide variants (SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs) of single and/or multiple exons. For every gene depicted in the gene sets, we analyse all coding regions as well as all known disease coding intronic variants. For mtDNA, phenotype associated hotspots are part of the analysis. Full analysis of mtDNA available upon request.
This diagnostic panel has a sensitivity of >99.6% for the heterozygous variant; the average coverage is >130x.
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Our dedicated support assists you in choosing the most appropriate diagnostic test for your patients.
General Information
- It is possible to select one or multiple predefined gene sets.
- In addition to the full analysis of the requested gene set(s), you may opt to expand the analysis to all genes of the Diagnostic Panel for variants that are pathogenic or likely pathogenic (ACMG class 4 and 5).
- If you would like to order a custom gene set, please contact us. We will support you throughout the ordering process.
Material, Turnaround Time and Costs
- 1-2 ml EDTA blood or 1-2 µg genomic DNA
- Order form with declaration of consent according to German Genetic Diagnosis Act (GenDG)
- Turnaround time: 4-6 weeks
The prices for our human genetic diagnostics depend on the size of the selected Diagnostic Panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using a in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house.
High throughput sequencing is performed on Illumina platforms.
Bioinformatic processing of the data is achieved using an in-house computer cluster.
Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.
Gene sets – Neuromuscular Diseases
