Whole Exome Sequencing
CentoXome^® – Turning Years Into Days

CentoXome offers a rapid and cost-effective solution for diagnosing rare and neurodegenerative diseases, serving as both a first-line and second-line test to identify molecular diagnoses in patients with suspected genetic disorders or negative results from prior genetic testing.^{3, 5, 11} Moreover, it may provide a cost-effective alternative to multiple independent molecular assays, thereby streamlining the diagnostic process.

WES has traditionally been recommended when patients present with complex, heterogeneous phenotypes suggestive of multiple conditions or when prior genetic testing has been inconclusive. Its utilization in clinical practice has significantly increased in recent years, surpassing standard genetic tests such as single genes, NGS panels, and chromosomal microarray analysis.^{4, 10, 13–15} Additionally, there is growing evidence of the economic value of using WGS/WES as a first-line test.^16–18 Guidelines from the ACMG (American College of Medical Genetics and Genomics) and other medical societies recommend exome/genome sequencing as a first- or second-line diagnostic test when a patient’s symptoms or family history suggest a genetic cause of the diseases.^19–22 Furthermore, test results from WES may lead to more rapid diagnoses, improved prevention of symptomatic illness, more targeted treatments, or even eliminate the need for some costly or invasive procedures.^{10 ,14, 15, 19, 23}

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)

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 CE-IVD bioinformatics pipeline, CENTOGENE accurately identifies disease-causing variants to deliver best-in-class clinical reporting.

CentoXome always includes medical reporting based on our clinical interpretation expertise, best-in-class curated variant data from our Biodatabank, 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 Biodatabank, which is a reference for diagnostic decisions and classifications.

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.