DG Clinical Exome®

The clinical exome study allows the analysis of genes of proven clinical relevance and associated with known clinical phenotypes.

Study of genes associated with pathologies

Clinical Exome analysis allows the simultaneous study of all genes of proven clinical relevance and associated with known clinical phenotypes. This ensures the maximum clinical utility of the genetic study, avoiding inconclusive results.

In our DG Clinical Exome® study, we performed whole exome capture and sequencing and performed filtering and analysis of the coding regions of more than 6,000 genes currently considered clinically relevant according to OMIM, HGMD and HPO reference databases, among others.

This approach allows:

Catalog of genetic studies
Learn more about our genetic diagnostic studies by downloading the catalog.

Service features

Features

CNVs: Copy Number Variations; MLPA: Multiplex Ligation-dependent Probe Amplification; 1AgilentSureSelect Human All Exon V8 covers 100% of the protein coding sequences from CCDS version 22, GENCODE version 31 and RefSeq version 95. 2CNVsidentified with a Pathogenic or Probably Pathogenic classification may be validated by MLPA or other molecular technique upon request. 3Toreceive the complete list, please send an email to genetica@dreamgenics.com.

Contact our team
If you would like to request a quotation, or if you have any questions, please do not hesitate to contact us and we will help you.

When is it indicated?

Clinical Exome analysis may be an option of interest when you want to focus the genetic study only on those genes associated with pathologies.

Scientific progress and the development of increasingly sensitive technologies mean that the number of genes included in this type of study is growing periodically, increasing the chances of reaching a correct diagnosis.

Therefore, the performance of a DG Clinical Exome® study is indicated in the following cases

Additional Services

Scientific knowledge about the involvement of genetic variants in disease development is constantly evolving. In addition, the clinical presentation of a disease may change over time. Therefore, we offer variant reassessment and case reanalysis services.

To request one of these services, please contact us by writing an email to genetica@dreamgenics.com.

Need more information?
If you need more information about our reanalysis and variant re-evaluation services, do not hesitate to contact us and we will help you.