WES (Whole Exome Sequencing)
Diagnostic test based on NGS of the complete coding region of all genes of the Human Genome.
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
