CENTOGENE’s New and Improved Whole Exome Sequencing Service

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 WES^3-8 via enhanced coverage of the exome, full mitochondrial genome, and known medically-associated genes and variants.

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)

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)

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

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

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;

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