DG Exome®

We study the coding regions of more than 20,000 genes in the human genome.

Maximum diagnostic performance

The DG Exome® whole exome study involves the sequencing of all coding genomic regions to obtain the maximum possible genetic information of the patient. From the sequencing of more than 20,000 genes, the genes to be studied can be sequentially selected according to the patient's phenotype.

Once the sequencing data is obtained, the different variants are analyzed based on current scientific knowledge and from a clinical point of view, combining our expertise in bioinformatics analysis with the interpretation and clinical integration of our team of geneticists.

The advantages of the Whole Exome as a diagnostic tool include:

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?

The American College of Medical Genetics and Genomics (ACMG) and other medical societies recommend whole exome sequencing as a first- or second-line diagnostic test in complex cases, such as rare and neurodegenerative diseases, and in patients suspected of having a genetic disorder who have had negative results from previous genetic testing.

Its versatility and high diagnostic yield have meant that its use in clinical practice has increased exponentially in recent years, replacing studies involving single gene sequencing and analysis, and becoming the most cost-effective diagnostic option currently available. In addition to these advantages, the results obtained from whole exome sequencing can lead to faster diagnoses, which allows the use of more patient-specific treatments and can eliminate the need for other more costly or invasive procedures.

Therefore, the performance of a DG 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.