Analysis of all known genes associated with genetic metabolic diseases incl. mitochondriopathies.
Panel diagnostics: The panel for metabolic diseases incl. mitochondriopathies covers 543 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.
This diagnostic panel has a sensitivity of >99.9% for the heterozygous variant; the average coverage is >150x.
- It is possible to select one or multiple predefined gene sets.
- In addition to the comprehensive analysis of the genes of the requested gene set, we can extend the analysis to all genes of the diagnostic panel on request. We report pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which may be associated with the indication of the person seeking advice.
- This panel is based on the CeGaT Exome Xtra enrichment. It is possible to expand the analysis to phenotypically relevant gene sets from other CeGaT Panels or individual genes, without additional sequencing. If you are looking for a custom panel, please contact us. We support you with the ordering process.
- In addition to the primary diagnostic order, assessing the ACMG genes and creating a pharmacogenetic profile can also be ordered.
Material, Turnaround Time and Costs
- 1-2 ml EDTA blood or 1-2 µg genomic DNA
- Tissue sample (e.g., muscle biopsy)
- Order form with declaration of consent according to German Genetic Diagnosis Act (GenDG)
- Turnaround time: less than 4 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.
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.