Whole Genome

    Whole Genome Sequencing

    The most comprehensive genetic study available. Analyzes all DNA for maximum diagnostic reach.

    6 weeks
    Saliva or dried blood sample

    While the exome only analyzes protein-coding regions (1-2% of the genome), whole genome sequencing reads all 3.2 billion base pairs of our DNA. This enables detection of variants in regulatory, intronic, and structural regions.

    What is it?

    Whole Genome Sequencing (WGS) is the genetic study with the highest resolution and scope available. Unlike WES, WGS sequences the entire human genome, including intronic, intergenic, regulatory, and repetitive regions.

    When to request WGS?

    ✓
    When WES or previous panels were negative and clinical suspicion persists.
    ✓
    Suspicion of structural variants or deep intronic variants.
    ✓
    Comprehensive neonatal or pediatric genomic evaluation.
    ✓
    Diagnosis of rare diseases where causal genes are not fully characterized.
    ✓
    Research and future reanalysis: the most complete genomic dataset available.

    What does it analyze?

    ✓
    All coding regions (~20,000 genes) with more uniform coverage.
    ✓
    Complete intronic regions to detect deep intronic variants.
    ✓
    Regulatory regions: promoters, enhancers, silencers, and UTRs.
    ✓
    Intergenic regions with distant regulatory elements.
    ✓
    SNVs and indels across the entire genome, not just coding regions.

    Technical specifications

    Technology
    Whole genome NGS without capture
    Coverage
    30X average over complete genome
    Platform
    Illumina, 2×150 bp read chemistry
    Pipeline
    Illumina DRAGEN — GRCh37/Hg19
    Scope
    ~3.2 billion base pairs
    Classification
    ACMG guidelines

    Frequently asked questions

    What's the difference between exome and whole genome?

    The exome analyzes 1-2% of DNA that codes proteins. The whole genome sequences 100% of DNA, including regulatory and intronic regions.

    If the genome is more complete, why not always do it?

    WGS generates a much larger data volume, which can complicate interpretation. For defined clinical suspicions, a panel or exome may be more efficient.

    Can virtual panels be run on genome data?

    Yes. WGS allows multiple focused reanalyses on specific genes or regions over time.

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

    Results and advisory available in English and Spanish

    Whole Genome
    $1,500

    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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