A comprehensive view into patients’ genetic data using whole genome sequencing. CentoGenome® is the most complete solution to diagnose genetically complex and undiagnosed cases with the highest level of certainty.

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  1. Whole Genome Sequencing

Whole Genome Sequencing

Whole genome sequencing (WGS) identifies almost all changes in a patient’s DNA by sequencing both the entire protein coding and the non-coding regions of the genome. It provides for instance detailed information on the thousands of genes involved in normal growth, development, and all of the "silent" genomic regions simultaneously.

Today there are millions of patients suffering from incorrectly diagnosed or undiagnosed genetic diseases because of insufficient genetic testing. Although in certain cases approaches like single gene testing, panel testing or microarrays are able to identify the cause of a disease, these analyses are ultimately limited and can fail to reveal the full genetic cause. WGS, in contrast, overcomes such limitations and can detect all relevant variants and variant types within a single step and method.

Most research on genetic diseases has been heavily biased towards mutations in gene coding regions, but this is about only 1-2% of a patient’s entire genome. Numerous clinical studies now exist which demonstrate the critical role of non-coding sequence variants as well.

Why Choose CentoGenome®?

Unparalleled genome coverage and multi-variant detection in one test

Highest diagnostic power through combination with reference databases

Fast track to diagnosis and potentially therapy

Best-in-class clinical reports

Most comprehensive individual dataset for lifelong discoveries

Whole Genome Sequencing at CENTOGENE – CentoGenome®

Excellent genome coverage and uniformity

End-to-end bioinformatics analysis

Validation of the sequencing results

Detailed clinical reports

CentoGenome® – Key Features

WGS captures the broadest scope of genetic alterations causing a disease in one single test – single nucleotide variants (SNVs), small insertions and deletions (InDels), structural variants (SVs), including large copy number variations (CNVs), and thus providing the most comprehensive variant analysis.

  • Whole genome
  • All non- and protein-coding regions, regulatory regions and splice sites
  • Almost complete and uniform coverage of the genome
  • Mean depth ~30X
  • ~99% of the genome covered at ≥10x
VariantsSNVs and InDels
  • Sensitivity >97.6%
  • Confirmation of potentially relevant low quality SNVs and InDels by Sanger
SVs and CNVs
  • Sensitivity


    51 bp - 1kb                                 >70%
    1 kb - 10 kb                                >60%
    Copy number deletion >10kb     >70%
    51 bp - 99 bp                           >70%     
    100 bp - 199 bp                       >80%         
    200 bp - 299 bp                       >75%                
    >300 bp                                    >65%
    Tandem Duplication 100 bp - 1kb   >85%
    Tandem Duplication 1 kb - 10 kb    >65%
    Copy number duplication >10 kb    >70%
  • Confirmation of unclear SVs and CNVs by an orthogonal method


  • CentoGenome® Solo - Sample report, positive

  • CentoGenome® Trio - Sample report index, positive

  • CentoGenome® Trio - Sample report parent 1, positive

  • CentoGenome® Trio - Sample report parent 2, positive


When is CentoGenome® Recommended ?

CentoGenome® is recommended especially for the diagnosis of patients with heterogeneous phenotypes, unclear or atypical clinical symptoms, or with a long list of prior differential diagnoses, or who have exhausted other genetic testing options.

Medical indicationsExamples

Clinical or genetic heterogeneity

Genetic diseases with similar presentations related to many causal genes: similar phenotype – many genes

  • Intellectual disability/developmental delay Epilepsy, Epileptic encephalopathies
  • Muscular dystrophies/muscular disorders, Ataxia, Neuropathies
  • Cardiomyopathies, Skeletal dysplasias Immunodeficiency, Deafness, Blindness

Diseases or patients with atypical clinical presentations or phenotypes

From the clinical perspective it is difficult to select a specific gene or group of genes

  • Patient with intracranial aneurysm (due to PKD1 gene - polycystic kidney disease)

Patients with ‘blended’ clinical presentations and clinical suspicion of dual diagnosis

These cases also pose a challenge in the interpretation of the results

  • Patient with deafness and ichthyosis
  • Patient with intellectual disability and severe immunodeficiency

Patients with clear genetic disease and previous genetic testing is negative

  • Patient with autosomal dominant spastic paraplegia and with a negative result for the gene panel
  • Index patient with neurodevelopmental delay and 2 similarly affected siblings, CMA, WES are negative

Suspected of a microdeletion or microduplication syndrome

  • Patients with neurodevelopmental delay, multiple dysmorphisms and/ or malformations, and growth delay (IUGR, FTT)

Suspected mitochondrial disease

  • Patient with muscular weakness, cardiomyopathy, visual problems

Previous WES testing is negative

  • Any case with suspected genetic disease and negative WES

Patients and families with relevant genetic burden and want to have cutting-edge science to pursue genetic diagnosis, offering the most complete genetic test

  • Parents of index with neurogenerative disease, and 2 siblings deceased in early infancy due to same phenotype

CentoGenome® – Tailor the Analysis to Your Patient's Needs

Options and Packages
Turnaround time
Standard≤20 business days
FAST≤15 business days
PrenatalPrenatal workflow
  • Reduced turnaround time, up to ≤15 business days
  • Prioritization and expediting at each stage of the process
  • Includes cell culture and maternal contamination
Number of samplesSolo, Duo and TrioYes
    Trio plusYes
    Reanalysis and reinterpretationAt low cost in case of uncertain or negative results Yes
    Additional testing

    CentoMito® Genome


      Clinical Anamnesis and Reporting

      Conclusive clinical reports

      In WGS, data analysis and identifying the disease-underlying variant(s) among a large number of variants is still a challenge. With CentoGenome®, we can help you to diagnose complex and unsolved cases of genetic origin, by finding the clinically important variants. CentoGenome® combines our expertise in bioinformatics and clinical interpretation, with our proprietary variant database CentoMD® and world-class experience in rare disease diagnostics.

      We analysed tens of thousands of clinical genomes or exomes from patients worldwide. This experience and variant information is integrated and reflected in CentoMD®, which is the largest mutation database of rare genetic diseases. In combination with a solid anamnesis and description of symptoms, this is the foundation of our high diagnostic rates.

      • Detailed evaluation of patient’s clinical information and family history
      • Clear results of identified variants that can explain the phenotype
      • Variant classification following international best-practice guidelines (ACMG)1,2
      • Comprehensive medical interpretation
      • Recommendations for differential diagnoses or follow-up analyses for specific diseases
      • References to publications supporting the medical and scientific results
      • Detailed description of the genetic testing method, and coverage report of genes
      • Report of research variants or incidental findings (optional)

      Clinical anamnesis

      For high-quality interpretation of the data, it is crucial to obtain specific and detailed clinical information about the index patient and ideally also further family members when performing whole genome sequencing. This can increase the diagnostic yield to significantly over 40%3.

      Incidental findings

      CENTOGENE does report on findings not directly related to the cause of a disease only upon request and only for genes listed in the ACMG guidelines2.


      1. Kalia SS, Adelman K, Bale SJ, et al. (2017). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics. Genet Med. 19(2):249-255. doi:10.1038/gim.2016.190Data on file at CENTOGENE

      2. Green RC, Berg JS, Grody WW, et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 15(7):565-574. doi:10.1038/gim.2013.73

      3. Data on file at CENTOGENE

      Scientific articles

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