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
