1. NGS Panel Genomic

Feel confident from the first step

Next generation sequencing (NGS) panels are a useful diagnostic tool when a patient’s clinical story suggests a clear genetic etiology.

However, even when the right genes are selected, there remains a 30-35% risk of a negative result*. In order to reduce the chances of a ‘non-conclusive’ result, NGS panel testing can be combined with additional genetic tests. This increases the cost and time to diagnosis, and can still miss the relevant genomic region.


NGS Panel Genomic - The smart solution

CENTOGENE, a pioneer in clinical whole genome sequencing (WGS) data interpretation offers you a new solution: a panel at the price of NGS, but with the diagnostic accuracy of WGS.

  • Validated by highly experienced medical experts
  • Detailed assessment of clinical data
  • Rapid turnaround time < 20 working days

A cutting-edge workflow

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Unparalleled added value

Frequently asked questions

WES only targets the coding regions of a patient’s genome, and only 90-95% of the targeted bases will be covered due to sequencing depth. NGS Panel Genomic gives 100% coverage of the entire region of interest.

Compared to classic NGS panels, NGS Panel Genomic provides the highest information content and higher accuracy, saving cost and time as no additional CNV analysis, WES or WGS is required.

In addition, the results can be revisited as new genes and mutations are identified which are linked to the patient’s phenotype with no additional testing, something not possible with standard NGS panel testing.

Mutations are typically found in the coding regions of the genome, but can also be present outside of the gene in non-coding regulatory regions.

Traditional panel tests only target common gene and coding regions. Standard NGS panels have additional limitations, either due to design limitation or limited complexity of coverage (panel composition is fixed and CNVs or other complex mutations are omitted).

NGS Panel Genomic is a flexible panel testing service that can include the entire target region, coding and non-coding, as needed, and will also identify CNV and other complex diseases causing mutations first time.

Efficiency and accuracy is improved in NGS Panel Genomic over other NGS Panels. Current NGS panel tests need a mean coverage depth of 150-250x due to non-uniform coverage of the regions tested, otherwise important information would be missed. Average coverage must be high in order to raise difficult and poorly enriched regions above the analyzable threshold (20x).

In comparison, coverage by NGS Panel Genomic is completely uniform and a mean coverage of 30x is sufficient to cover all regions.

Additionally, NGS Panel Genomic adopts a PCR-free approach, reducing any biases, which allows accurate discrimination of bases at 10x or even lower.

With NGS Panel Genomic, costs savings can be considerable when initial NGS results are negative (in approximately 30-35% of patient cases).

Unlike standard NGS Panel testing, NGS Panel Genomic includes additional testing to analyse the genome in greater depth and complexity, including deletion/duplication, CNV, follow up exome or genome sequencing, mitochondrial analysis and analysis of new genes associated with the phenotype when new information surfaces.

Your CENTOGENE NGS panel options

Downloads for NGS Panel Genomic

  • NGS Panel Genomic case study 1: TSC2 - autosomal dominant Tuberous Sclerosis

    Download
  • NGS Panel Genomic case study 2: TMEM38B - Osteogenesis imperfecta type XIV

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