Targeted exomes
Targeted study of particular genes for specific clinical suspicions
Targeted exomes classified by the medical specilaties
From whole exome sequencing we offer targeted exomes of all known genes with defined clinical relevance according to reference databases such as OMIM, HGMD, Orphanet and ClinVar for various medical specialties.
The whole exome approach we use allows:
- Targeted study of the set of genes related to the suspected disease.
- Sequentially expand to a new set of genes in case of a negative or inconclusive result in the first approach.
- Re-analysis of new candidate genes associated with the pathology studied 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.
When is it indicated to perform targeted exomas?
- The patient has distinctive signs or symptoms.
- There is a known family history of a particular disorder.
- There are multiple linked genes.
- The genes associated with the disease are well defined.
Characteristics of our targeted exomes
- The sequencing of the more than 20,000 genes that make up the human genome
- Illumina® NovaSeq 6000 Platform
- SureSelect Human All Exon V8 Library
- Mean 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.
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.
Targeted exomes
Targeted study of particular genes for specific clinical suspicions
Targeted exomes classified by the medical specilaties
From whole exome sequencing we offer targeted exomes of all known genes with defined clinical relevance according to reference databases such as OMIM, HGMD, Orphanet and ClinVar for various medical specialties.
The whole exome approach we use allows:
- Targeted study of the set of genes related to the suspected disease.
- Sequentially expand to a new set of genes in case of a negative or inconclusive result in the first approach.
- Re-analysis of new candidate genes associated with the pathology studied in the future without the need for re-sequencing.
When to perform a Whole Exome study?
- The patient has distinctive signs or symptoms.
- There is a known family history of a particular disorder.
- There are multiple linked genes.
- The genes associated with the disease are well defined.
Characteristics of our targeted exomes
- The sequencing of the more than 20,000 genes that make up the human genome
- Illumina® NovaSeq 6000 Platform
- SureSelect Human All Exon V8 Library
- Mean 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.
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.
Targeted exomes
Targeted study of particular genes for specific clinical suspicions
Targeted exomes classified by the medical specilaties
From whole exome sequencing we offer targeted exomes of all known genes with defined clinical relevance according to reference databases such as OMIM, HGMD, Orphanet and ClinVar for various medical specialties.
The whole exome approach we use allows:
- Targeted study of the set of genes related to the suspected disease.
- Sequentially expand to a new set of genes in case of a negative or inconclusive result in the first approach.
- Re-analysis of new candidate genes associated with the pathology studied in the future without the need for re-sequencing.
Characteristics of our targeted exomes
- The sequencing of the more than 20,000 genes that make up the human genome
- 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.
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.