The Diagnostic Accuracy of Whole Genome Sequencing in an NGS Panel
The NGS Panel Genomic are Next Generation Sequencing (NGS) panels based on whole genome sequencing (WGS). The specific gene panels are chosen in the same way as the panels covered by a traditional, enrichment-based NGS product, using available scientific and medical evidence to select the panel containing the relevant genes/variants of clinical utility and validity.
The panels allow you to use your strong diagnostic hypothesis to reduce the cost relative to a straight WGS, while still benefitting from the power and upside of whole genome testing. WGS provides information on the entire genome for both coding and non-coding regions, while also providing additional information on mutations in regulatory regions and copy number variations (CNVs) with higher certainty compared with microarrays and whole exome sequencing (WES). WGS thus captures the broadest scope of genetic alterations causing a disease in one assay: single nucleotide variants (SNVs), small insertions and deletions (InDels), structural variants (SVs), including CNVs – providing the most comprehensive variant analysis in one genetic test.
NGS Panel Genomic are best suited for the confirmation of your clinical hypotheses when multiple clinical features do not fit a specific clinical diagnosis, but fall within the spectrum of well-established Mendelian conditions. Since they are based on WGS, which cover the complete genome, the NGS Panel Genomic can be quickly and cost effectively reflexed to WGS evaluation based on the original DNA sample and data with no resequencing needed. This reflex workflow decreases the time to results compared to sequential test ordering and consequently allows shortening the diagnostic journey.
About 70% of our comprehensive range of NGS panels are available as NGS Panel Genomic. Search for your panel choice and benefit from the highest diagnostic accuracy, fastest turnaround times, and cost savings.
Why Choose NGS Panel Genomic?
Why Choose NGS Panel Genomic?
The Diagnostic Accuracy of WGS
- Unmatched information by covering non- and coding regions and multivariant detection
- Increased coverage of the genic regions
- Higher accuracy of detecting CNVs and complex gene rearrangements
Faster Results and More Cost-effective than Sequential Orders
- Little loss of time with step wise analysis, with all raw data generated at one time
- Powered by WGS, all information related to the panel and phenotype is available in less than business 20 days
- Eliminates additional costs on step wise analysis like Del/Dup, follow up WES/WGS, or analysis of new genes associated with the phenotype when new information surfaces
Smart Solution Tailored to Your Patient's Needs
- Many panel compositions available
- Allows for screening of multiple potentially clinically relevant genes, and with maximum flexibility when reflex is chosen
- Reflex to WGS offers flexibility towards new gene discoveries or clinical demands
Easy and Cost-effective Reflex to WGS when Necessary
- First step is less expensive than WGS
- Easy reflex to evaluation of the full genome for cases with a negative panel outcome
- Cost effective for out of pocket payment and from payer perspective
Your CENTOGENE NGS Panel Options
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*For male samples, panels including X-chromosomal genes will reach a lower coverage of ≥97% at ≥10x
With NGS Panel Genomic, costs savings can be considerable when initial NGS results are negative. Unlike standard NGS Panel testing, NGS Panel Genomic includes analysis of the genomic data in greater breadth and depth ̶ including CNV, and offers follow up genome evaluation and reporting, and allows for analysis of new genes associated with the phenotype when new information surfaces.
Mutations are typically found in the coding regions of the genome, but can also be present in non-coding and regulatory regions. Traditional NGS panel tests only target common gene and coding regions, and have additional limitations due to either design or complexity of coverage. NGS Panel Genomic is a flexible panel testing solution that can include the entire target region, coding and non-coding as needed, and will identify small and large CNV and other complex diseases causing mutations first time.
WES only targets the coding regions of a patient’s genome while NGS Panel Genomic cover non- and coding region of the genes 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 analysis or data acquisition 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 analysis, something not possible with a standard NGS panel testing.
NGS Genomic Panel – The Smart Analysis for Your Patient's Needs
|TAILORED OPTIONS FOR YOUR PATIENT'S NEEDS|
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NGS Panel Genomic – When is best suited?
- Confirmation of clinical hypotheses
- Multiple clinical features that do not fit a specific clinical diagnosis, but fall within the spectrum of well-established Mendelian conditions
- Very rare clinical presentations
- Because of either a single atypical finding or an unfamiliar combination of phenotypes