CENTOGENE’s New and Improved 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 NEW 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 NEW 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 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.
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Best-in-class insights from the leader & trusted partner in rare disease diagnostics
Turn Your Open Questions Into Answers
Superior technology from the experts in omics testing for rare diseases
Turn Our Commitment Into Your Promise
Life-long support by a team dedicated to improving the lives of patients with rare diseases
Superior Technology With Unmatched Clinical Coverage and Diagnostic Power in a Single Test
The NEW CentoXome 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 Bio/Databank in rare diseases 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 medically-associated genes and variants.
|FEATURES & PERFORMANCE|
|EXOME & MITOCHONDRIAL GENOME COVERAGE|| |
|ENHANCED COVERAGE OF MEDICALLY RELEVANT REGIONS || |
SNVs: single nucleotide variants; InDels: small insertions/deletions; CNVs: copy number variations; UPD: uniparental disomy; mtDNA: variants in 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, MPLA; 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 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.9,11,12
NEW 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. 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)
Tailored Services Paired With Life-Long Support
We offer flexible testing options and additional services to provide a NEW CentoXome analysis tailored to patients’ needs, such as for ongoing pregnancies with fetal abnormalities, for prenatal diagnostics, and expedited WES for critically ill patients that need rapid and precise genetic diagnosis.
Committed to improving the lives of patients with rare diseases, NEW 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.13
|OPTIONS AND ADDITIONAL SERVICES|
|TURNAROUND TIME||Regular||≤30 business days|
|Fast||≤15 business days|
|TESTING DESIGN||Solo, Duo, Trio, and Trio Plus|
|ADDITIONAL SERVICES**||Prenatal testing* |
|Genome-wide high-resolution analysis of SVs/large CNVs |
|Lifelong diagnostic support |
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; SVs: structural variants; CNVs: copy number variants; sWGS, shallow whole genome sequencing; CMA: chromosomal microarray analysis
*More details at Prenatal Testing
**We also offer raw data free of charge for download, along with filtered and annotated variant table for further research.
***More details at Variant Reclassification Program
Best-in-Class Insights by the Leader & Trusted Partner in Rare Disease Diagnostics
When choosing our WES service, 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 high quality 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.
NEW 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. When applicable, we use our complementary omics testing platform and in-house data from our Bio/Databank to confirm results and validate the pathogenicity of variants found. All historical high-quality classifications are curated and codified in our 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.
- Clearly structured, conclusive, and concise reports
- Detailed evaluation of patient’s family history and clinical information
- Clear results of identified variants that can explain the phenotype following international best-practice guidelines (ACMG)14,15
- Recommendations for differential diagnoses or follow-up analyses for specific diseases
- References to publications supporting the medical and scientific results and detailed method description
- Optional research findings related to phenotype if the diagnostic results are negative, and/or secondary findings based on ACMG guidelines14
- CENTOGENE’s ‘Tabular List’ variant section for the index patient, which includes known genetic variants in our Bio/Databank classified as pathogenic/likely pathogenic. Our list makes often unreachable information accessible to physicians/genetic counselors, which may lead to further diagnostics and medical management of the patient and/or their family
For more information, please consult the Medical Reporting webpage and CENTOGENE’s ‘Tabular List’ variant section webpage.
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;
CentoXome® – Case study
Patient diagnosed with primary coenzyme Q10 deficiency type 4 after detecting two pathogenic variants in the COQ8A gene. This ended the diagnostic odyssey, allowed appropriate treatment, and helped the patient and his partner with preconception counseling.
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Posters & Whitepapers
With big data being a key enabler of any successful artificial intelligence effort, CENTOGENE is ideally suited to employ artificial intelligence (AI) in our diagnostic workflow.
Learn more about our recent findings in confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification.
Validation of gene causality for neurological disorders by WES/WGS analyses in a diagnostic setting
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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.
Throughout the CentoTalk, Maximilian Schmid, M.D., and Jorge Pinto Basto, M.D., will provide a detailed overview of CENTOGENE’s new and enhanced Whole Exome Sequencing (WES) solution.