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        Home > Genetic Solutions

        CGT: Carrier Genetic Test

        CGT is an advanced carrier genetic test before pregnancy to determine the risk of having a chind with a genetic disease.

        • Technical overview
        • Disorders
        • Gamete banks
        • Documentation
        • Scientific evidence
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        • I’m not a health specialist

        The global prevalence of genetic diseases is 10 in 1000 newborn infants.

        [*] ACOG Committee on Genetics
        This Committee Opinion was developed by the American College of Obstetricians and Gynecologists’ Committee on Genetics in collaboration with committee members Britton Rink, MD;
        Stephanie Romero, MD; Joseph R. Biggio Jr, MD; Devereux N. Saller Jr, MD; and Rose Giardine, MS.

        84% of individuals are carriers of at least one condition.

        [*] ACOG Committee on Genetics
        This Committee Opinion was developed by the American College of Obstetricians and Gynecologists’ Committee on Genetics in collaboration with committee members Britton Rink, MD;
        Stephanie Romero, MD; Joseph R. Biggio Jr, MD; Devereux N. Saller Jr, MD; and Rose Giardine, MS.

        The average person is carrier of 2 disease-causing mutations.

        [*] ACOG Committee on Genetics
        This Committee Opinion was developed by the American College of Obstetricians and Gynecologists’ Committee on Genetics in collaboration with committee members Britton Rink, MD;
        Stephanie Romero, MD; Joseph R. Biggio Jr, MD; Devereux N. Saller Jr, MD; and Rose Giardine, MS.

        Inherited disorders represent 20% of the causes of infant mortality in developed countries

        [*] ACOG Committee on Genetics
        This Committee Opinion was developed by the American College of Obstetricians and Gynecologists’ Committee on Genetics in collaboration with committee members Britton Rink, MD;
        Stephanie Romero, MD; Joseph R. Biggio Jr, MD; Devereux N. Saller Jr, MD; and Rose Giardine, MS.

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        Course CGT

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        About CGT

        What is a single gene disorder?

        A single gene disorder it’s a hereditary disorder caused by the presence of a mutation, or mutations, in a particular gene. Gene disorders can’t be cured, but they can be prevented.

        It identifies couples in which both partners are carriers. In this way it prevents serious genetic disorders in their offspring.

        It analises disorders such as Cystic Fibrosis, Spinal Muscular Atrophy, Fragile-X Syndrome amongst others by NGS.

        If both partners carry a mutation in the same gene, they will be at high risk of having an affected child. In these cases, there are options for conceiving healthy children, like Preimplantation Genetic Diagnosis or gamete donation. It’s also possible to use prenatal diagnosis after conceiving naturally.

        Most carriers of genetic mutations don’t have a family history of these disorders

        Test features

        • Study on more than 6,000 mutations associated with over 600 genetic disorders.
        • Genetic counseling for patients and specialists.
        • Availability of a specific module for gamete donation programs.
        • Genetic screening test based on massive sequencing (NGS) and clinically validated.

        Who is this test for?

        For any couple who wants to form a family to know the risk of transmitting hereditary disorders to their children

        Before an assisted reproduction treatment

        Before a treatment with donor sperm or eggs.

        Which disorders are studied?

        It analises disorders such as Cystic Fibrosis, Spinal Muscular Atrophy,
        Fragile-X Syndrome amongst others.

        CGT 600 Related publications

        What’s the procedure?

        The test requires 5 ml of blood collected in an EDTA tube which is transported at room temperatur and with the recommended protection: a padded envelope or in the pack sent in the kit. The sample should be sent within a maximum of 48 hours.

        How is a carrier screening performed?

        Doctor prescibes test
        Blood sample
        DN Aanlaysis by NGS
        Mutation report

        How do we interpret the results?

        + POSITIVE

        If the tested person carries a mutation in a particular gene, the test should be carried out in the other member of the couple.

        - NEGATIVE

        A negative result indicates that the person doesn’t carry any of the mutations studied. There is still residual risk of carrying another mutation not analyzed by the test.

        Application of the test to the donor bank

        At Igenomix we offer the test to infertility clinic patients receiving a sperm or egg donation. The joint study of both the donor and recipient significantly reduces the possibility of having a baby affected by the disorders studied.

        Why choose the Igenomix Carrier Screening Test?

        39,000

        TESTS PERFORMED

        53

        PARTNER CLINICS

        14

        LABS IN 9 COUNTRIES

        How can I explain this service to my patients

        Non-technical explanation for your patients Brochure for your patients Product sheet
        Documentation & Resources

        For printing or to download

        BROCHURE

        Download

        BROCHURE

        Download

        BROCHURE

        Download

        Tools:

        TOOLS

        Calculator

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        Download
        Scientific evidence

        Relevant related studies:

        Vafai, S. B. & Mootha, V. K.

        Mitochondrial disorders as windows into an ancient organelle

        Nature 491, 374–383 (2012)

        Read
        Vafai, S. B. & Mootha, V. K.

        Mitochondrial disorders as windows into an ancient organelle

        Nature 491, 374–383 (2012)

        Read
        Methodology
        CGT for gamete banks

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        The Carrier Screening Test from Igenomix provides a powerful and exclusive computerized
        tool called CGT Match. This software allows genetically matched gametes to be selected for a
        recipient after analyzing the egg or sperm bank of an assisted reproduction clinic.

        Difference between a genetically tesed banck and a non tested bank

        1 / 20

        A banck whis is not genetically tested, uses eggs with a hight risk of transmitting a genetic disease

        TESTED

        1 / 110,000

        A banck whis is not genetically tested, uses eggs with a hight risk of transmitting a genetic disease

        NON TESTED
        Technical information

        Test limitations

        • The sensitivity of the test is 98%.
        • We only analyze genes on the list available, reporting results based on knowledge current at the time of testing. Therefore, only genes included in this list will be detected.
        • The method is based on analysis by massive parallel sequencing and bioinformatics, studying all the exons of the genes included on our gene list. This includes adjacent intronic regions before or after position +5 and -5. Variants located outside the gene regions studied, such as gene-expression regulatory regions or intronic regions before or after position +5 and -5 are not detected.
        • No inversions, deletions, or duplications over 20 nucleotides long that are not referred to in the list available, are studied.
        • Germ mosaics (mutations only present in gametes) are not detected by this analysis because the DNA material studied is obtained from a blood sample.
        • A negative result for the genes indicated does not exclude the possibility that a de novo mutation may appear in the offspring.

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        Igenomix e la fertilità

        Igenomix è un laboratorio di analisi mediche specializzato nei servizi di genetica riproduttiva. Alla Igenomix lavoriamo affinché, nel mondo del futuro, l’infertilità non sia più un problema. Facciamo ricerca sulla riproduzione umana e sulla genetica riproduttiva in collaborazione con cliniche e medici specializzati di tutto il mondo, con l’obiettivo di cambiare la vita di quelle coppie che stanno cercando di concepire.

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        Igenomix related services

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