DG Exome®
We carry out the study of the coding regions of more than 20,000 existing genes.
One of the tests with the highest diagnostic performance
The DG Exome Whole Exome study involves the sequencing of all coding genomic regions to obtain as much genetic information of the patient as possible. From the sequencing of more than 20,000 genes, the genes to be studied can be sequentially selected according to the patient's phenotype.
The advantages of the Whole Exome study as a diagnostic tool include:
- Diagnostic performance up to 80% for specific diseases.
- Possibility of identification of new genes with clinical significance and detection of new variants or genes associated with the pathology that have not yet been described.
- Re-analysis of new candidate genes that may be associated with pathology in the future without the need for re-sequencing.
- EDTA blood (1x 5 ml)
- Saliva (specific Isohelix kit)
- Buccal exudate (2x sterile isopes)
- Isolated DNA (>30 ng/μl in >100 μl)
Remember to label each sample with the patient's first and last name or with the identifier used on the request form.
Specialties covered by DG Exome®
When is a Whole Exome study indicated?
- Genetic disease undiagnosed by previous genetic testing or there is an inconclusive result of a previous genetic testing.
- Heterogeneous and complex clinical phenotype leading to suspicion of several genetic diseases.
- Clinical phenotype that does not correspond to any known genetic disease.
- Absence of a specific genetic test.
DG Exome® Features
- Sequencing of all the coding genomic regions of more than 20,000 genes.
- Illumina® NovaSeq 6000 Platform
- SureSelect Human All Exon V8 Library
- Average coverage 100 x - 150 x
- Specificity ≥99% for all reported variants.
- CNVs analyzed using our own algorithm*.
- Mitochondrial DNA analysis upon request
- Delivery time: 35-45 days
*Valdés-Mas R, et al. PLoS One. 2012;7(12):e51422.
Other options available
Clinical Exome
Our clinical exome study DG Clinical Exome® involves the analysis of the coding regions of more than 6,000 genes currently considered to be of clinical relevance according to OMIM, HGMD and ClinVar reference databases, among others.
Custom Exome
We design personalised studies to solve complex genetic cases. In a collaborative work between our geneticists and the doctors responsible for the patient, a selection of the most suitable genes for the patient's phenotype is made.
Targeted exomes
Targeted exomes are the best diagnostic approach in cases where syndromes with multiple associated genes are suspected. Since it is based on whole exome sequencing, the study can always be expanded to analyze more genes.
Trio Exome
Whole Exome Sequencing in the patient and their progenitors. The genetic information obtained is analyzed in an integrated manner allowing to determine the inheritance pattern in the identified variants and facilitating the identification of the variants causing the patient's phenotype.
Our genetic report
- Conclusive reports with specific clinical recommendations in each case.
- Interpretation of variants based on clinical evidence and according to public and reference databases.
- Pathogenic and Probably Pathogenic variants are reported according to the ACMG classification.
- Variants of Uncertain Clinical Significance (VOUS) are reported only in those cases in which they can fully or partially explain the patient's clinical picture.
- Benign and probably benign variants are available upon request.
DG Exome®
Study of the coding regions of the more than 20,000 existing genes.
One of the tests with the highest diagnostic performance
The DG Exome Whole Exome study involves the sequencing of all coding genomic regions to obtain as much genetic information of the patient as possible. From the sequencing of more than 20,000 genes, the genes to be studied can be sequentially selected according to the patient's phenotype.
The advantages of the Whole Exome study as a diagnostic tool include:
- Diagnostic performance up to 80% for specific diseases.
- Possibility of identification of new genes with clinical significance and detection of new variants or genes associated with the pathology that have not yet been described.
- Re-analysis of new candidate genes that may be associated with pathology in the future without the need for re-sequencing.
When to perform a whole exome study?
- Genetic disease undiagnosed by previous genetic testing or there is an inconclusive result of a previous genetic testing.
- Heterogeneous and complex clinical phenotype leading to suspicion of several genetic diseases.
- Clinical phenotype that does not correspond to any known genetic disease.
- Absence of a specific genetic test.
DG Exome® Features
- Sequencing of all the coding genomic regions of more than 20,000 genes.
- Illumina® NovaSeq 6000 Platform
- SureSelect Human All Exon V8 Library
- Medium coverage 100-150x
- Specificity ≥99% for all reported variants.
- CNVs analyzed using our own algorithm*.
- Mitochondrial DNA analysis upon request
- Delivery time: 35-45 days
*Valdés-Mas R, et al. PLoS One. 2012;7(12):e51422.
Other options available
Our clinical exome study DG Clinical Exome® involves the analysis of the coding regions of more than 6,000 genes currently considered to be of clinical relevance according to OMIM, HGMD and ClinVar reference databases, among others.
Custom Exome
We design personalised studies to solve complex genetic cases. In a collaborative work between our geneticists and the doctors responsible for the patient, a selection of the most suitable genes for the patient's phenotype is made.
Targeted exomes are the best diagnostic approach in cases where syndromes with multiple associated genes are suspected.
Trio Exome
Whole Exome Sequencing in the patient and their progenitors. This strategy increases the diagnostic rate compared to whole exome study in the index case only.
Our genetic report
- Conclusive reports with specific clinical recommendations in each case.
- Interpretation of variants based on clinical evidence and according to public and reference databases.
- Pathogenic and Probably Pathogenic variants are reported according to the ACMG classification.
- Variants of Uncertain Clinical Significance (VOUS) are reported only in those cases in which they can fully or partially explain the patient's clinical picture.
- Benign and probably benign variants are available upon request.
DG Exome®
We carry out the study of the coding regions of more than 20,000 existing genes.
One of the tests with the highest diagnostic performance
The DG Exome Whole Exome study involves the sequencing of all coding genomic regions to obtain as much genetic information of the patient as possible. From the sequencing of more than 20,000 genes, the genes to be studied can be sequentially selected according to the patient's phenotype.
The advantages of the Whole Exome study as a diagnostic tool include:
- Diagnostic performance up to 80% for specific diseases.
- Possibility of identification of new genes with clinical significance and detection of new variants or genes associated with the pathology that have not yet been described.
- Re-analysis of new candidate genes that may be associated with pathology in the future without the need for re-sequencing.
DG Exome® Features
- Sequencing of all the coding genomic regions of more than 20,000 genes.
- Illumina® NovaSeq 6000 Platform
- SureSelect Human All Exon V8 Library
- Medium coverage 100-150x
- Specificity ≥99% for all reported variants.
- CNVs analyzed using our own algorithm*.
- Mitochondrial DNA analysis upon request
- Delivery time: 35-45 days
*Valdés-Mas R, et al. PLoS One. 2012;7(12):e51422.
Our genetic report
- Conclusive reports with specific clinical recommendations in each case.
- Interpretation of variants based on clinical evidence and according to public and reference databases.
- Pathogenic and Probably Pathogenic variants are reported according to the ACMG classification.
- Variants of Uncertain Clinical Significance (VOUS) are reported only in those cases in which they can fully or partially explain the patient's clinical picture.
- Benign and probably benign variants are available upon request.