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DG Clinical Exome®

The clinical exome study allows the analysis of genes of proven clinical relevance and associated with known clinical phenotypes.

Study of genes associated with pathologies

Clinical Exome analysis allows the simultaneous study of all genes of proven clinical relevance and associated with known clinical phenotypes. This ensures the maximum clinical utility of the genetic study, avoiding inconclusive results.

In our DG Clinical Exome® study, we performed whole exome capture and sequencing and performed filtering and analysis of the coding regions of more than 6,000 genes currently considered clinically relevant according to OMIM, HGMD and HPO 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 the 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.
Catalog of genetic studies
Learn more about our genetic diagnostic studies by downloading the catalog.
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Service features

Features
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.
Genes
Analysis of the coding regions of more than 6,000 genes currently considered to be of clinical relevance according to the OMIM, HGMD and HPO reference databases, among others.
Bookstore
Agilent Sure Select Human All Exon V8.
Mitochondrial DNA
For studies requiring mitochondrial DNA analysis we use the Twist Human Core Exome probe + RefSeq Panel + mitDNA Panel.
Coverage
  • Complete theoretical coverage for protein coding regions collected in RefSeq, CCDS, GENCODE1 databases.
  • Medium coverage 100-150x.
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.
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.
Genotype-first interpretation
The variants of interest are compared with the patient's clinical picture. This approach allows the identification of new genes with clinical significance and the detection of new variants or genes associated with the pathology studied that have not yet been described.
Report of results
  • Conclusive and 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 American College of Medical Genetics and Genomics (ACMG) classification.
  • Variants of Uncertain Clinical Significance (VUS) are reported only in those cases in which they can fully or partially explain the patient's clinical presentation.
  • Benign and Probably Benign variants will be available upon request3.
Valid samples
Sangre EDTA, saliva en kit Isohelix u Oragene y ADN purificado.
Delivery time
35 working days.

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.
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When is it indicated?

Clinical Exome analysis may be an option of interest when you want to focus the genetic study only on those genes associated with pathologies.

Scientific progress and the development of increasingly sensitive technologies mean that the number of genes included in this type of study is growing periodically, increasing the chances of reaching a correct diagnosis.

Therefore, the performance of a DG Clinical Exome® study is indicated in the following cases

  • Patients with complex clinical phenotype compatible with several genetic diseases.
  • Suspected nonspecific syndrome where selection of a specific group of genes is not possible.
  • Complex disease with difficulties to establish whether it has a genetic basis or not and/or high genetic heterogeneity. 
  • Genetic disease undiagnosed by more specific genetic testing.
  • Complex differential diagnosis.

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.

Features
Family studies
For complex cases we can perform clinical exome analysis DG Clinical Exome® in duo and trio, where the index case and one or both parents are usually analyzed together.
Re-evaluation of VUS
  • We performed the classification review according to ACMG criteria of variants initially reported as of Uncertain Clinical Significance (VUS) at 12 months and issued a new report in case of changes in their pathogenicity.
  • Additionally, this service can be performed upon request of the physician.
  • Deadline for delivery of the new report: 15 working days.
Reanalysis of the case
  • The patient's sample is reanalyzed from FASTQ, taking into account the new clinical information provided by the physician. The aim is to find new clinically relevant variants that can explain or contribute to the diagnosis by improving the bioinformatics pipeline and updating the information contained in the databases used in the annotation.
  • This service is performed only upon request of the physician.
  • Delivery time of the new report: 21 working days.
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.

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