Exome Sequencing

    Clinical Exome Sequencing

    Analysis of coding regions of the genome for molecular diagnosis of complex genetic conditions.

    6 weeks
    Saliva or dried blood sample

    The exome represents approximately 1-2% of all our DNA, but contains the vast majority of disease-causing genetic variants. Clinical exome sequencing analyzes approximately 20,000 protein-coding genes, enabling identification of the genetic cause behind hereditary conditions.

    What is it?

    Whole Exome Sequencing (WES) is a molecular diagnostic test that uses next-generation sequencing (NGS) to simultaneously analyze all coding regions of the human genome — approximately 20,000 genes. Unlike targeted genetic panels, WES offers an agnostic approach.

    When to request WES?

    ✓
    Diagnostic odyssey: Patients without molecular diagnosis after conventional evaluations.
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    Multisystem clinical presentation: When symptoms don't point to a single genetic condition.
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    Genetic heterogeneity: Conditions where multiple genes can cause similar phenotypes.
    ✓
    Pediatric evaluation: Children with developmental delay, intellectual disability, or malformations.
    ✓
    Trio studies (patient + parents): Increases diagnostic yield to 35-50%.

    What does it analyze?

    ✓
    Single nucleotide variants (SNV) in ~20,000 coding genes.
    ✓
    Small insertions and deletions (indels) that can alter proteins.
    ✓
    Tertiary analysis against ClinVar, OMIM, GWAS, HGMD, SwissVar.
    ✓
    Variant classification according to ACMG guidelines.
    ✓
    Possibility of virtual panels post-sequencing without new sample.

    Technical specifications

    Technology
    NGS with complete exome capture
    Coverage
    100X average over exonic regions
    Platform
    MGI, 2×150 bp read chemistry
    Pipeline
    Illumina DRAGEN — GRCh37/Hg19
    Individual yield
    25-35% diagnostic
    Trio yield
    35-50% diagnostic

    Frequently asked questions

    What's the difference between a genetic panel and exome?

    A panel evaluates specific genes for a defined condition. The exome analyzes ~20,000 genes without restrictions, ideal when the differential diagnosis is broad.

    What is a trio study?

    The patient and both parents are sequenced simultaneously, allowing identification of de novo variants and increasing diagnostic yield to 35-50%.

    Can virtual panels be run on exome data?

    Yes. The data allows focused reanalysis on specific genes without needing a new sample.

    ISO 13485:2016, IVD (CE) and ISO 9001:2015 certifications

    Results and advisory available in English and Spanish

    Exome Sequencing
    $1,000

    Includes sample collection kit, complete analysis, and detailed clinical report in Spanish.

    Need help choosing the right test?

    Our team helps you determine the most appropriate study based on clinical indication.

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