CarrierRef®

Carrier testing

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RefLab CarrierRef®

What is CarrierRef®?

CarrierRef® is the most comprehensive carrier screening test, combining NGS sequencing with other molecular biology techniques to study >360 diseases and >4.000 variants. The diseases
studied in our test have been selected based on the following criteria:

Test code: 15048

5 mL whole blood EDTA

Informed consent must be sent with the sample

The importance of offering CarrierRef® to your patients

We are all carriers of 14-18 pathogenic genetic variants

Up to 2.3% of couples are carriers of the same pathogenic genetic variant

Carrier couples have an increased risk of having an affected offspring

20% of deaths and 10% of pediatric hospitalizations in developed countries are due to hereditary diseases. CarrierRef® offers early and actionable  information on serious genetic diseases to facilitate family planning, adequate prenatal care and access to prenatal, neonatal and/or pediatric treatments.

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    Why choose CarrierRef®?

    PREVENTION AND PLANNING

    It allows us to find out whether the parents are carriers of any pathogenic variant associated with an autosomal recessive genetic disease or linked to the X chromosome, in order to guide them in making informed decisions and prenatal/postnatal plans.

    GREATER KNOWLEDGE AND SECURITY

    GENETIC COUNSELLING

    ADVANTAGES OVER OTHER TESTS

    When is CarrierRef® indicated?

    Risk assessment in patients with positive results

    Autosomal Recessive Inheritance

    Most people are asymptomatic carriers of some autosomal recessive genetic diseases. If both biological parents are carriers of a mutation in the same gene, the risk that the offspring will present the disease is 25%.

    X-linked Inheritance

    A woman who is a carrier and does not suffer from a genetic disease linked to the X chromosome can ignore her carrier status and transmit the mutation to 50% of her offspring. In each pregnancy, the patient will have a 25% chance of having an affected offspring.

    How to order?

    Check our sample requirements

    Genetic Counseling Support

    Ordering a test or Service from
    us is simple and quick

    We accept a wide range
    of samples

    Get pre and postanalysis
    genetic counseling

    How to order?

    Ordering a test or Service from
    us is simple and quick

    Check our sample requirements

    We accept a wide range
    of samples

    Genetic Counseling Support

    Get pre and postanalysis
    genetic counseling

    Get our latest updates
    directly to your mailbox

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