Carrier Test

    Genetic Carrier Compatibility

    Identify pathogenic variants in 297 genes associated with recessive and X-linked hereditary diseases.

    6 weeks
    Saliva or dried blood sample

    Did you know we all carry hidden genetic variants that could affect our children's health? Even if we're completely healthy, we could transmit hereditary conditions unknowingly. The Carrier Test analyzes 297 genes to give you peace of mind before taking the most important step: starting your family.

    What is it?

    It's a genetic study designed for future parents who want to make informed decisions. Through a simple saliva or dried blood sample, we analyze your DNA to identify if you carry genetic variants that, combined with your partner's, could pose a risk to your baby. It's fast, non-invasive, and provides key information to plan with confidence.

    When to request this test?

    ✓
    Preconception family planning: Couples planning a pregnancy who want to know their risk of transmitting recessive genetic diseases.
    ✓
    Individual reproductive risk assessment: People who want to know their carrier status before forming a couple.
    ✓
    Relevant family history: Families with a history of recessive genetic diseases or consanguinity.
    ✓
    High-risk populations: Individuals from communities with higher prevalence of specific genetic conditions.
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    Couple evaluation with an affected child: Parents who already have a child diagnosed with a genetic condition.

    What does it analyze?

    ✓
    Metabolic diseases: Cystic fibrosis, phenylketonuria, Gaucher disease, galactosemia, Wilson's disease.
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    Neurological diseases: Spinal muscular atrophy, Duchenne/Becker muscular dystrophy, Friedreich's ataxia.
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    Hematological diseases: Sickle cell anemia, thalassemias, Fanconi anemia, hemophilia A and B.
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    Lysosomal storage diseases: Tay-Sachs disease, Fabry disease, Pompe disease.
    ✓
    Sensory conditions: Congenital hearing loss, retinitis pigmentosa, Usher syndrome.

    Technical specifications

    Technology
    Next-generation sequencing (NGS)
    Genes evaluated
    297 clinically relevant genes
    Coverage
    100X average over target regions
    Platform
    MGI, 2×150 bp read chemistry
    Classification
    ACMG guidelines
    Databases
    ClinVar, OMIM, HGMD, gnomAD, ExAC

    Frequently asked questions

    What's the difference between individual and couple testing?

    The individual test determines your carrier status. The couple test analyzes both members simultaneously to identify matching risks for offspring.

    What does it mean to be a carrier?

    Being a carrier means you have a variant in a gene that doesn't cause disease in you, but could be transmitted to your children.

    Can I take the test if I already have an affected child?

    Yes. The test allows confirming carrier status for both parents and evaluating risk for future pregnancies.

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

    Results and advisory available in English and Spanish

    Carrier Test
    $1,000

    Couple: $1,800

    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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