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DG Exome®

We study the coding regions of more than 20,000 genes in the human genome.

Maximum diagnostic performance

The DG Exome® whole exome study involves the sequencing of all coding genomic regions to obtain the maximum possible genetic information of the patient. From the sequencing of more than 20,000 genes, the genes to be studied can be sequentially selected according to the patient's phenotype.

Once the sequencing data is obtained, the different variants are analyzed based on current scientific knowledge and from a clinical point of view, combining our expertise in bioinformatics analysis with the interpretation and clinical integration of our team of geneticists.

The advantages of the Whole Exome as a diagnostic tool include:

  • Maximum diagnostic performance currently available.
  • 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.
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
Sequencing of all coding genomic regions of more than 20,000 genes.
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?

The American College of Medical Genetics and Genomics (ACMG) and other medical societies recommend whole exome sequencing as a first- or second-line diagnostic test in complex cases, such as rare and neurodegenerative diseases, and in patients suspected of having a genetic disorder who have had negative results from previous genetic testing.

Its versatility and high diagnostic yield have meant that its use in clinical practice has increased exponentially in recent years, replacing studies involving single gene sequencing and analysis, and becoming the most cost-effective diagnostic option currently available. In addition to these advantages, the results obtained from whole exome sequencing can lead to faster diagnoses, which allows the use of more patient-specific treatments and can eliminate the need for other more costly or invasive procedures.

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

  • 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 to diagnose the suspected genetic disease.

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 DG Exome® whole exome analysis 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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