Back

NGS Panel Genomic

THE SMART SOLUTION

Use your diagnostic hypothesis to reduce the cost, while benefitting from the power and upside of whole genome testing

Our most flexible and accurate gene panel with cost-effective reflex to whole genome sequencing

Order a Test

  1. NGS Panel Genomic

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?

A patient centric panel choice with WGS accuracy

Confirmation of your clinical hypotheses

Convenience and faster reflex iteration when needed

Receive and pay for the full WGS report only when needed


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


NGS Panel Genomic NGS Panel

Genes

  • 145 different panels specific for selected disorders with 2-1204 genes included
  • 209 different panels specific for selected disorders with 2-1204 genes included
Coverage
  • ≥99.0%* of the targeted regions covered at ≥10x
  • Entire gene, including non- and protein-coding regions, regulatory regions, and splice sites
  • All relevant deep intronic and regulatory mutations described in CentoMD® and HGMD®
  • ≥99.5% coverage of the target regions at ≥20x
  • All gene coding regions and ±10 exon-intron boundaries
  • All relevant deep intronic and regulatory mutations described in CentoMD® and HGMD®

Variants

  • SNVs, InDels, large SVs and CNVs detection in one analysis
  • SNVs and InDels detection
  • Add-on analysis of NGS-based CNVs
  • Optional additional assays for detection of clinical relevant repeat expansions (FLA, RPA) and large duplications/deletions (MPLA, qPCR) in selected genes
Cost
  • One cost for a complete analysis
  • In case of a negative result, reflex to whole genome evaluation possible at minor additional cost
  • Cannot revisit new genes
  • When new genes related to the phenotype are identified, a new assay is required either as a single gene test or new panel
Turnaround time
  • ≤ 20 business days
  • ≤ 25 business days

*For male samples, panels including X-chromosomal genes will reach a lower coverage of ≥97% at ≥10x

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

    Download

Frequently Asked Questions

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
Turnaround time
Standard≤20 business days
FAST≤15 business days
Prenatal
  • Reduced TAT, up to ≤15 business days
  • Prioritization and expediting at each stage of the process
  • Includes cell culture and maternal contamination

Flexibility

  • About 70% of our panels are available as NGS Panel Genomic
  • Easy reflex to evaluation of the whole-genome for cases with a negative panel result

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

Get in touch with our Partner Support

Our consultation service is available in several languages.

+49 (0) 381 - 80113 416

Mon. – Fri. 7 a.m.– 8 p.m. CET • Sat. 9 a.m – 5 p.m. CET

For our US Partners:

+1 (617) 580-2102

Mon. – Fri. 9 a.m. – 5.30 p.m. EST