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CentoXome® – Turning Years Into Days

It takes approx. 7 years to diagnose a patient with a rare disease. With CentoXome, we can turn those years into days – powered by our best-in-class insights based on superior technology, our extensive clinical experience, and wealth of genetic data in rare diseases.

Order a test  Why choose CentoXome?

CENTOGENE’s Enhanced Whole Exome Sequencing Service

Whole Exome Sequencing (WES) is a comprehensive genetic test that identifies changes in a patient's DNA that are causative or related to their medical concerns. By focusing on the entire protein-coding regions of the genome – the exome – WES offers you the coverage you need to diagnose patients rapidly and reliably.

Overcoming the Obstacles of Rare Disease Diagnostics with CentoXome

With more than 7,000 identified rare diseases and approximately 80% being linked to genetic causes, diagnosing rare disease patients can often be difficult – resulting in lengthy, expensive, and emotional diagnostic odysseys.1,2

With WES, this doesn’t have to be the case. Containing the majority (~85%) of known disease-causing changes, WES uncovers the cause of rare diseases in less time and at a lower overall cost – leading to better patient outcomes. With CentoXome, we’ve taken WES to the next level. Enhanced to provide unparallel clinical coverage and diagnostic power in a single test, our product design and medical interpretation utilizes the world’s largest rare disease-centric Bio/Databank containing >31 million unique variants from over 120 countries.

The Results: Diagnosing complex and unsolved patient cases – quicker and with the highest levels of certainty.

Why Choose CENTOGENE?

Distinctive product offering centered around high-quality genetic testing

Strong presence in and access to countries with a high prevalence of rare diseases

CentoCard provides easy logistics for central testing

Rare disease-centric Bio/Databank generates best-in-class medical insights

Deep expertise in rare, metabolic, and neurodegenerative diseases, as well as multiomics enables better diagnostics

Why Choose CentoXome?

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Best-in-class insights from the leader & trusted partner in rare disease diagnostics – Turn Our Expertise Into Your Advantage

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Superior technology from the experts in omics testing for rare diseases – Turn Your Open Questions Into Answers

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Life-long support by a team dedicated to improving the lives of patients with rare diseases – Turn Our Commitment Into Your Promise

We Think It’s Time for a Change. Are you ready to turn years into days?

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CentoXome MOx – Explore the Next Generation of Whole Exome Sequencing

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Superior Technology With Unmatched Clinical Coverage and Diagnostic Power in a Single Test

CentoXome's design and service delivers the ideal quality and performance from the world leader and trusted partner in rare disease diagnostics, with outstanding clinical coverage and unmatched clinical diagnostic power in a single test. Coupling insights from our extensive and unique rare disease-centric Bio/Databank with superior omics technology, patients and physicians benefit from a unique approach that increases diagnostic yield by up to 20% compared to routine WES3-8 via enhanced coverage of the exome, full mitochondrial genome, and known clinically-associated genes and variants.

Features & Performance

Broad and uniform exome & mitochondrial genome coverage
  • Mean depth ≥100 x
  • Highly uniform coverage of the entire exome (~20,000 genes), +/- 10 bp exon-intron boundaries, and complete mitochondrial genome (37 genes); with ≥ 98.0% target regions covered at ≥20 x
Enhanced coverage of clinically relevant regions
  • ~8,000 disease-associated genes (OMIM®, HGMD®, CENTOGENE’s rare disease-centric Bio/Databank), with ≥99.0% target regions covered at ≥20 x
  • >99.0% of all known clinically relevant variants in coding and non-coding regions (HGMD®, ClinVar, CENTOGENE’s rare disease-centric Bio/Databank)
Advanced and sensitive detection of nearly all types of variants in one single test
  • Highly sensitive and specific detection of SNVs, InDels, CNVs of exon-level to cytogenomic-level changes, UPD*, and mtDNA variants with heteroplasmy ≥15%
  • Sensitivity
    SNVs and InDels (≤55 bp) >99.6%
    CNVs (≥3 exons)** >95.0%
  • Specificity of >99.9% is guaranteed for all reported variants***

 

SNVs: single nucleotide variants; InDels: small insertions/deletions; CNVs: copy number variations; UPD: uniparental disomy; mtDNA: mitochondrial DNA
*UPD screening is performed using an in-house specific algorithm for the following well-known clinically relevant chromosomal regions: 6q24, 7, 11p15.5, 14q32, 15q11q13, 20q13 and 20
**CNV detection software has a sensitivity >95.0% for all homozygous/hemizygous and mitochondrial deletions, as well as heterozygous deletions/duplications and homozygous/hemizygous duplications spanning at least three consecutive exons
***Variants with low quality and/or unclear zygosity are confirmed by orthogonal methods (i.e., SNVs and InDels by Sanger sequencing; CNVs by Multiplex ligation-dependent probe amplification, MLPA; quantitative polymerase chain reaction, qPCR; or chromosomal microarray, CMA)

When Is WES Recommended?

We recommend WES for complex and undiagnosed cases with suspicion of genetic causes.

WES is conventionally recommended when patients present complex, heterogeneous phenotypes that are suggestive of multiple conditions or are otherwise unclear or atypical. WES may also be recommended when a prior genetic test was unsuccessful. The latest clinical evidence also supports WES as a first-line test when a patient’s symptoms or family history suggests a genetic cause of the diseases. This is especially true for neurodevelopmental disorders, including intellectual disability, global developmental delay, and autism spectrum disorder due to the high diagnostic yield.9,10 The ACMG (American College of Medical Genetics and Genomics) recommends the use of exome/genome sequencing as first-tier test for children with intellectual disability, developmental delay, or multiple congenital anomalies.11 The test results  from WES may also lead to more rapid diagnoses, improved prevention of symptomatic illness, more targeted treatments or even end the need for some costly or invasive procedures.9,11–13


We particularly recommend CentoXome for patients when:

  • Symptoms are very broad, complex, or unspecific, not pointing towards specific disease or typical phenotype
    e.g., patients with developmental delay, intellectual disability, autism spectrum disorder, epilepsy
  • Suspicion of chromosomal imbalances, microdeletion, or microduplication syndromes
    e.g., children with global development delay, and/or multiple congenital anomalies, DiGeorge syndrome
  • Clinical suspicion of mitochondrial disease
    e.g., patients with muscular weakness, cardiomyopathy, visual problems
  • A severe presentation in the neonatal or childhood period
    e.g., neonate babies and infants critically ill in Neonatal and Pediatric Intensive Care Units (NICU and PICU, respectively)
  • Prior genetic testing did not provide a conclusive diagnosis
    e.g., patient with neurodevelopmental delay, with similarly affected siblings, and negative testing with microarrays
  • Need a cost-conscious alternative to Whole Genome Sequencing (WGS)

CentoXome can help you tackle challenging and undiagnosed patient cases across all stages of life and covers a broad spectrum of disorders encompassing >7,000 rare diseases

Tailored Services Paired With Life-Long Support

We offer flexible testing options and additional services to provide a CentoXome analysis tailored to patients’ needs, such as for ongoing pregnancies with fetal abnormalities to establish a prenatal diagnostis and expedited WES for critically ill patients that need rapid and precise genetic diagnosis.

Committed to improving the lives of patients with rare diseases, CentoXome is paired with life-long diagnostic support via a free-of-charge and proactive reclassification program, as well as an affordable case-level reanalysis in case of uncertain or negative results. WES diagnostic yield is continuously increasing due to the rapid rate of new gene-disease discoveries, and it is estimated that about 10–20% of undiagnosed patients can be diagnosed by reclassification and genomic data reanalysis.14

Options & Additional Services

Turnaround time Regular ≤30 business days
Fast ≤15 business days
Testing design Solo, Duo, Trio, and Trio Plus
Prenatal testing*
  • Prioritization and expediting at each stage of the process
  • Reduced turnaround time, up to ≤15 business days
  • Includes cell culture and maternal contamination testing
Genome wide analysis of structural variants
  • CentoArray® (chromosomal microarry analysis, CMA)
Raw data
  • Raw data available free-of-charge for download (FASTQ, BAM, VCF files) along with filtered and annorared variant table (XLS file) for further research
Life-long diagnostic support
  • Proactive variant-level reclassification at no extra cost**
  • Case-level reanalysis at an affordable cost in case of uncertain or negative results

Solo: only the affected index patient is tested; Duo: index patient and affected or unaffected family member are tested; Trio: index patient and two family members, affected or unaffected are tested; PLUS: additional family member beyond Trio is tested;
*More details at Prenatal Testing
**More details at Variant Reclassification Program

Best-in-Class Insights by the Leader & Trusted Partner in Rare Disease Diagnostics

When choosing our WES, physicians, patients, and partners can feel confident that they will receive high-quality sequencing combined with best data analysis and interpretation, documented in comprehensive medical reports. By combining deep phenotype data with genotype data using our advanced bioinformatics pipeline and artificial intelligence (AI), we accurately identify and prioritize disease-causing variants to deliver best-in-class clinical interpretation and reporting.

CentoXome always includes medical reporting based on our clinical interpretation expertise, best-in-class curated variant data from our Bio/Databank, and international best-practice guidelines. A team of highly trained clinical geneticists and scientists interpret the data and cross-check every medical report. All historical high-quality classifications are curated and codified in our rare-disease centric Bio/Databank, which is a reference for diagnostic decisions and classifications. This data repository covers a wide range of ethnicities, unique variant data, and multiomic data from more than 120 countries.

Test reports always contain clear actionable clinical results, recommendations, and follow-up options. They are phenotype-driven and focused on reporting findings related to the patient’s clinical presentation/patient’s indications.

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Complete the Clinical Picture With Biochemistry

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Integrated genomic and biochemical testing facilitates the decision on the pathogenicity of clinical variants leading to higher diagnostic yield

Biochemical testing allows for orthogonal confirmation of disease – accelerating the path to a diagnosis by avoiding stepwise testing​

Multiomics provides a complete clinical picture – enabling the assessment of disease severity and thus accelerating personalized treatments​

Additional Information & Resources

Webinars

MOx – Advancing Rare Disease Patient Care With Multiomic Solutions

Watch the on-demand webinar now to gain insights into our multiomics revolution – a multidimensional approach looking at each patient from different angles to combine deep knowledge and insights for […]

Webinar
Apr 07, 2022
  • Multiomics
  • WGS
  • WES
  • Metabolic Disorders
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Rewrite the Future of Rare Diseases With Multiomics

Our speakers, Maximilian Schmid M.D., Chief Commercial Officer – Diagnostics, and Prof. Peter Bauer M.D., Chief Genomic Officer, will highlight the power of multiomics in establishing a complete […]

Webinar
Nov 04, 2021
  • Multiomics
  • WES
  • NGS
  • Mutation Database
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NEW CentoXome® – Turning Our Expertise Into Your Advantage

Dr. Aida Bertoli-Avella and Dr. Jorge Pinto-Pasto provide you with an exclusive look into our enhanced Whole Exome Sequencing (WES) solution – NEW CentoXome.

Webinar
Sep 28, 2021
  • WES
  • NGS
  • Mutation Database
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Scientific Publications

Linking Seizures and Amino Acid Homeostasis

Seizures are part of the phenotypic spectrum in numerous rare disorders, but the underlying pathophysiology is rarely understood. For a novel seizure syndrome, the transmembrane transport of certain […]

Article
Oct 04, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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Combining Genetic Insights and Therapeutic Efforts

The delineation of a novel rare disease is commonly a stand-alone research project. An international consortium, in which CENTOGENE played a major role, showcased how disease discovery can […]

Article
Sep 30, 2021
  • WGS
  • WES
  • Mutation Database
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Collaborative Discovery of Gene-Disease Associations

The delineation of novel genetic disorders is facilitated by the formation of global research consortia. By actively contributing to collaborative efforts, CENTOGENE has supported dozens of […]

Article
Jul 08, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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Downloads

CENTOGENE CentoXome Case Study English PDF

CentoXome – Case Study

Case study: Diagnosis of primary coenzyme Q10 deficiency-4

CENTOGENE New CentoXome Productsheet English PDF

CentoXome – Product Sheet

NEW CentoXome – Whole Exome Sequencing

CENTOGENE Sample Report New CentoXome Trio Index PDF

CentoXome MOx Trio – Index, Positive Secondary and Additional Findings

CARRIER STATUS CONFIRMED – Likely pathogenic variant identified

CENTOGENE Sample Report New CentoXome Trio Mother PDF

CentoXome MOx Trio – Mother, Carrier Status Confirmed, Negative Secondary Findings

CARRIER STATUS CONFIRMED – Likely pathogenic variant identified

Get in Touch With Our Customer Support

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Sat. 8 a.m. – 12 p.m. CEST

Contact Us

For our US Partners:

+1 (617) 580 - 2102

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References

1RARE Facts - Global Genes; 2NIH Genetics and Rare Disease (GARD); 3Clark et al. 2018, PMID: 30002876; 4Gross et al. 2018, PMID: 30293986; 5Wagner et al. 2019, PMID: 31059585; 6Schon et al. 2020, PMID: 3267494; 7Cheema et al. 2020, PMID: 3308301; 8Trujillano et al. 2017, PMID: 27848944; 9Stark et al. 2016, PMID: 26938784; 10Srivastava et al. 2019, PMID: 31182824; 11Smith. et al.2019, PMID: 29760485; 12Vissers et al. 2017, PMID: 28333917; 13Liu et al. 2019, PMID: 31216405; 14Miller et al. 2021, PMID: 34012069; 15Richards et al. 2015, PMID: 25741868; 16Clinical Genome Resource. www.clinicalgenome.org [15/02/2022]; 17Matthijs et al. 2026, PMID: 26508566