ESOMA
Through NGS sequencing, it is now possible to analyze the sequence of all approximately 20,000 genes (the exome) in a single test with the aim of identifying the molecular cause of the disease, thereby significantly reducing the time it takes to diagnose genetic disorders.
Why take the tests
Through NGS sequencing, it is now possible to analyze the sequence of all approximately 20,000 genes (the exome) in a single test with the aim of identifying the molecular cause of the disease, thereby significantly reducing the time it takes to diagnose genetic disorders
Who the tests are for
Exome sequencing is most appropriate:
- when there is a family history of a condition likely to be of genetic origin, for which traditional diagnostic techniques have failed to identify the specific causative genetic abnormality;
- in individuals with complex phenotypes and multiple differential diagnoses;
- in cases of genetically heterogeneous diseases;
- in cases of genetic disorders for which no specific genetic test is available;
- when previous genetic tests have been inconclusive.
What the test detects
The DNA genetic test involves sequencing the entire coding sequence and adjacent regions (± 20 nucleotides) of protein-coding nuclear genes. The test also provides complete coverage of relevant non-coding variants in the ClinVar database, identifies single-nucleotide variants and small insertions/deletions (INDELs) within the
target regions and, furthermore, includes screening for Copy Number Variations (CNVs) in genes associated with the patient’s phenotype.
The report is expected to be issued approximately 12–14 weeks after receipt of the sample.