WES (Whole Exome Sequencing)

Whole Exome Sequencing

Our WES tests have been developed to maximize the diagnostic yield for patients with genetic disorders and include:

• high-quality sequencing data
• state-of-the art bioinformatics pipeline
• high-quality interpretation by rare disease expert team of PhD geneticists
• Variant classification according to ACMG guidelines
• High quality population databases curated by experts
• improved coverage and clinical sensitivity of challenging genes
• CNV detection
• clinical interpretation and support

Main clinical indications:

• Complex phenotypes with multiple differential diagnoses
• Genetically heterogeneous disorders
• Suspected genetic disorders where a specific genetic test is not available
• Inconclusive previous genetic testing

Main clinical applications:

• Preconception: patients and couples with complex or genetically heterogeneous conditions or with a high risk
• Prenatal: Genetic syndromes, complex phenotypes, or clinical evidences by ultrasonographic findings
• Abortions or stillbirth with complex phenotypes and polymalformated fetuses
• Neonate babies and enfants with complex phenotypes, differential diagnoses, genetically heterogeneous disorders, etc
• Children with developmental or cognitive impairment, intellectual disability, autism, complex phenotypes, genetically heterogeneous disorders, differential diagnoses, etc
• Adults and couples with complex phenotypes, differential diagnoses, genetically heterogeneous disorders, etc