DG Clinical Exome®
Study of the more than 6,000 genes with known clinical association
Study of all clinically relevant genes
The DG Clinical Exome study allows the analysis of genes of proven clinical relevance and associated with known clinical phenotypes. This ensures maximum clinical utility of the study, avoiding inconclusive results.
In our study, we performed whole exome capture and sequencing and filtered and analysed the coding regions of more than 6,000 genes currently considered clinically relevant according to OMIM, HGMD and ClinVar reference databases, among others.
This approach allows:
- Simultaneously perform the study of all genes associated with known diseases, increasing the possibility of identifying the variant responsible for the patient's pathology.
- Extension of the study to whole exome in case of a negative result in the first approach.
- 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 Clinical Exome®
When is a Clinical Exome study indicated?
- Patients with complex clinical phenotype compatible with several genetic diseases.
- Suspected non-specific syndrome where selection of a particular set of genes is not possible.
- Complex disease with difficulties to establish whether it has a genetic basis or not and/or high genetic heterogeneity.
- Complex differential diagnosis.
Features of DG Clinical Exome®
- Analysis of the coding regions of more than 6,000 clinically relevant genes according to reference databases such as OMIM, HGMD and HPO.
- Illumina® NovaSeq 6000 Platform
- Twist Core Exome Library + RefSeq Panel (hg38)
- Mean coverage 100 x - 150 x
- 99.3 % of target regions covered at ≥20x
- 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.
Advantages of Dreamgenics
Studies always up to date
We carry out a constant update and literature review of our genetic studies for the inclusion of new genes with proven clinical association.
The best team of professionals
We have a multidisciplinary team of professionals to provide the best clinical interpretation in our studies and genetic counseling to our clients, whenever requested.
Our own Genome One software
We perform high quality bioinformatics analysis thanks to our Genome One software and 12 years of experience in genomic data analysis.
Continuous improvement
We are committed to innovation and research to always offer the best diagnostic tools to our patients, so we are currently involved in several research projects related to human health.
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 Clinical Exome®
Study of the more than 6,000 genes with known clinical association
Study of all clinically relevant genes
The DG Clinical Exome study allows the study of genes of proven clinical relevance and associated with known clinical phenotypes. This ensures the maximum clinical utility of the study, avoiding obtaining inconclusive results.
In our study, we performed whole exome capture and sequencing and filtered and analysed the coding regions of more than 6,000 genes currently considered clinically relevant according to OMIM, HGMD and ClinVar reference databases, among others.
This approach allows:
- Simultaneously perform the study of all genes associated with known diseases, increasing the possibility of identifying the variant responsible for the patient's pathology.
- Extension of the study to whole exome in case of a negative result in the first approach.
- 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 Clinical Exome study?
- Patients with complex clinical phenotype compatible with several genetic diseases.
- Suspected non-specific syndrome where selection of a particular set of genes is not possible.
- Complex disease with difficulties to establish whether it has a genetic basis or not and/or high genetic heterogeneity.
- Complex differential diagnosis.
Features of DG Clinical Exome®
- Analysis of the coding regions of more than 6,000 clinically relevant genes according to reference databases such as OMIM, HGMD and HPO.
- Illumina® NovaSeq 6000 Platform
- Twist Core Exome Library + RefSeq Panel (hg38)
- Mean coverage 100 x - 150 x
- 99.3 % of target regions covered at ≥20x
- 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.
Advantages of Dreamgenics
Studies always up to date
Ongoing updating and literature review for the inclusion of new genes with proven clinical association.
The best team of professionals
Multidisciplinary team to provide the best clinical interpretation and genetic counselling.
Our own Genome One software
High-quality bioinformatics analysis using our Genome One software and more than 10 years of experience in genomic data analysis.
Continuous improvement
Committed to innovation and research to offer the best diagnostic tools to our patients.
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 Clinical Exome®
Study of the more than 6,000 genes with known clinical association
Study of all clinically relevant genes
The DG Clinical Exome study allows the study of genes of proven clinical relevance and associated with known clinical phenotypes. This ensures the maximum clinical utility of the study, avoiding obtaining inconclusive results.
In our study, we performed whole exome capture and sequencing and filtered and analysed the coding regions of more than 6,000 genes currently considered clinically relevant according to OMIM, HGMD and ClinVar reference databases, among others.
This approach allows:
- Simultaneously perform the study of all genes associated with known diseases, increasing the possibility of identifying the variant responsible for the patient's pathology.
- Extension of the study to whole exome in case of a negative result in the first approach.
- Re-analysis of new candidate genes that may be associated with pathology in the future without the need for re-sequencing.
Features of DG Clinical Exome®
- Analysis of the coding regions of more than 6,000 clinically relevant genes according to reference databases such as OMIM, HGMD and HPO.
- Illumina® NovaSeq 6000 Platform
- Twist Core Exome Library + RefSeq Panel (hg38)
- Average coverage 100 x - 150 x
- 99.3 % of target regions covered at ≥20x
- 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.