Targeted exomes
Study of genes clinically associated with the suspected disease
Targeted testing for the diagnosis of hereditary disorders
Targeted exome sequencing involves the study of specific genes associated with a particular syndrome or condition. To design these tests, our geneticists select the genes of interest based on information available in clinical databases such as Orphanet, OMIM, HGMD, and GeneReviews, among others, as well as disease-specific databases, if available.
Targeted exome sequencing based on whole-exome sequencing offers numerous advantages when conducting a genetic study, as it allows us to:
- Conduct a targeted and simultaneous analysis of the set of genes associated with the suspected disease.
- Expand the set of genes sequenced in the event of a negative or inconclusive result in the initial testing.
- Re-examine the case and investigate new candidate genes associated with the condition under study in the future without the need for resequencing.
Catalog of genetic studies
We offer targeted exome sequencing in the following specialties
Service features
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Advice |
Pre-analysis support for the choice of the best diagnostic approach for each patient and post-analysis support for the correct diagnostic interpretation of the results.
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Genes |
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Bookstore |
Agilent Sure Select Human All Exon V8. |
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Mitochondrial DNA |
For studies requiring mitochondrial DNA analysis we use the Twist Human Core Exome probe + RefSeq Panel + mitDNA Panel. |
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Coverage |
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Specificity |
≥99% for all reported variants. Pathogenic and Probably Pathogenic variants with low coverage and/or not well-defined heterozygosity are validated by Sanger sequencing.
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Bioinformatics analysis |
Identification of SNVs, Indels and CNVs2 using our Genome One software. Alignment against the GRCh38/hg38 version of the reference genome. Variant calling and annotation with information from different functional (RefSeq, Pfam), population (1000 Genomes, dbSNP, ESP6500, ExAC, gnomAD), in silico functional impact prediction (dbNSFP, dbscSNV) and clinical information (OMIM, ClinVar, HPO) databases.
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Genotype-first interpretation |
Variants of interest are interpreted based on the patient's clinical presentation. This approach makes it possible to identify new genes with clinical significance and to detect new variants associated with the condition under study that have not yet been described. |
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Report of results |
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Valid samples |
EDTA-anticoagulated blood, saliva collected using an Isohelix or Oragene kit, and purified DNA.
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Delivery time |
35 working days. |
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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.
Would you like to request a customized study?
Genes included in a targeted exome
Ongoing scientific and technological advances in the field of genetics mean that our understanding of the genes involved in hereditary diseases is constantly evolving. Every year, new genes associated with diseases are identified, the clinical relevance of others is reassessed, and international guidelines are updated.
As a result, the genes included in targeted exome sequencing must be periodically reviewed to incorporate these new findings and provide the most accurate and up-to-date diagnosis possible. For this reason, the list of genes included in the targeted exome sequencing offered in our service portfolio is always subject to change and may vary depending on when the test is performed. The set of genes available today may differ from the one studied months later, either because new genes with emerging evidence are added, others whose association has been ruled out are removed, or regions of interest are updated. In this way, we can ensure that the final composition of the targeted exome used in each study will reflect the most current state of scientific knowledge at the exact moment of its analysis.
Additional Services
Targeted exome sequencing is a fundamental tool for genetic diagnosis, but its utility can be expanded through additional services that complement and enhance the interpretation of results. These services allow for a more in-depth analysis of complex cases, improve diagnostic reliability, and provide a more comprehensive approach to the patient and their family.
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Personalized targeted exome sequencing |
If you wish, you can send us a list of the genes of interest using RefSeq nomenclature (e.g., NM_ identifiers). With this information, we can design a personalized targeted exome, ensuring that only the genes clinically relevant to each patient are included. |
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Complete exome |
For complex cases, we can perform our DG Exome® whole-exome analysis, which examines the more than 20,000 genes that make up the human genome. |
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Family studies |
If necessary, we can perform whole-exome sequencing for parent-child and parent-grandparent-child panels, in which the index case and one or both parents are typically analyzed together. |
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Re-evaluation of VUS |
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Reanalysis of the case |
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Raw data |
Raw and processed whole exome data (FASTQ, BAM and VCF, along with filtered and annotated variant files in XLS format) are available upon request. |
To request one of these services, please contact us by writing an email to genetica@dreamgenics.com.
New service
Tailored assessments based on your patients' clinical needs
We offer the option of analyzing personalized targeted exomes based on our DG Exome® whole-exome sequence
With this service, we fully tailor our approach to your needs, allowing you to analyze the genes of your choice for each case. This way, you can select the most relevant genes based on your patients’ clinical presentation and your own preferences.