Genetica Molecolare | Genetics
Clinical Exome
Genetica Molecolare | Genetics
Clinical Exome
Genetica Molecolare | Genetics
Genetica Molecolare | Genetics
Genetica Molecolare | Genetics
Genetica Molecolare | Genetics
A diagnostic test that analyses more than 5,000 genes known to be associated with disease. The analysis is performed by sequencing all coding regions of genes associated with human disorders. It is recommended for identifying the molecular cause in individuals affected by conditions not linked to known diseases, genetically heterogeneous disorders, or complex syndromic presentations.
Initially, only those genes known to be associated with specific genetic conditions that show clinical features similar to those present in your family are analysed. If no alterations are identified in this first stage, the analysis will then extend to include all remaining disease-associated genes.
What are the possible outcomes of Clinical Exome sequencing? This test generates a large volume of data, which may present challenges in terms of interpretation and management. It is generally recommended to confirm any mutation detected through NGS using Sanger sequencing. In addition, it is generally necessary to establish the segregation of the mutation(s) within the family in order to determine which of the identified mutations is actually responsible for the condition.
The analysis may lead to three possible outcomes:
One or more genetic alterations are identified, which are interpreted as possible causes of the condition present in your family.
One or more genetic alterations are identified, but their role in relation to the condition is not clearly interpretable. In such cases, further investigations may be necessary to clarify the significance of these alterations. You will be informed of the results and kept up to date over time as interpretation evolves.
No relevant genetic alterations are identified to explain the condition under investigation. However, the results may be re-evaluated in the future as new information becomes available about the condition and the genes involved. You will be informed if relevant new findings emerge.
In addition to the three possible outcomes listed above, there is a possibility of incidental findings that is, the discovery of genetic alterations unrelated to the condition under investigation but potentially relevant to your health or that of your family members. Examples include genetic alterations associated with a predisposition to late-onset cancers or neurological disorders, or being a healthy carrier of a genetic condition which may not affect your health, but could have implications for reproductive risk (the transmission of diseases to your offspring).
Massively parallel sequencing or Next Generation Sequencing (NGS) is an innovative and highly versatile technology that allows the parallel sequencing of millions of DNA fragments. This enables the simultaneous analysis of multiple genes, providing a higher diagnostic yield than traditional sequencing while significantly reducing turnaround time.
The test is performed at the Pavia operational site, which implements a quality management system in accordance with ISO 9001:2015 and SIGUCert standards