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  1. Also known as: gene tests, chromosomal tests

    Identifies changes/abnormalities in chromosomes, genes, or proteins to confirm or rule out suspected genetic conditions.

    Type: Blood sample, Amniotic fluid sample, Body tissue sample

    Duration: Usually 5-60 mins

    Results available: Within a week

    Conditions it may diagnose: Down syndrome · Turner syndrome · Klinefelter syndrome · Cystic fibrosis · Duchenne muscular dystrophy and more

    Is Invasive: Invasive

    Ability to rule out condition: Moderate to high

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    Preparation

    Verified Expert
    • In case of tests for a genetic disorder that runs in families, you may want to consider discussing with your family to obtain details about family history.
    • No special preparation is required to be done before the test.
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    What To Expect During the test

    Verified Expert
    • Genetic tests are performed on a sample of blood, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue.
    • In case of newborns, genetic screening tests are done on a small blood sample obtained by pricking the baby's heel.
    • In case of prenatal genetic test, a small amount of amniotic fluid may be collected for testing by inserting a thin, hollow needle through the abdominal wall and into the uterus or a tissue sample from the placenta may be collected with a tube (catheter) through the cervix or through the abdominal wall and uterus using a thin needle.
    • The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder.
    • The amount of time it takes for you to receive your genetic test results depends on the type of test and your health care facility.
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    Risks and complications

    Verified Expert
    • Physical risks involved is negligible in case of blood and cheek swab tests.
    • Prenatal testing has a small risk of pregnancy loss (miscarriage).
    • It may have emotional, social and financial risks eg. tension within a family because the results can reveal information about other family members in addition to the person who is tested , genetic discrimination in employment or insurance.

    Avoid in case the doctor feels the risk is more than the benefit especially in case of invasive prenatal genetic testing.

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    Normal result values

    Verified Expert

    • Negative result (no change in the gene, chromosome, or protein under consideration)

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  2. Genetic testing
    Genetic testing is "the analysis of chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes." [ 11] It can provide information about a person 's genes and chromosomes throughout life.
    en.wikipedia.org/wiki/Genetic_testing
    Genetic testing
    Genetic testing is the use of a laboratory test to examine an individual’s DNA for variations, typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a genetic test can be used to confirm or rule out a suspected genetic disease.
    www.genome.gov/genetics-glossary/Genetic-Testing
    Genetic testing
    Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. They are all designed to identify a particular gene that may cause a genetic disorder.
    patient.info/treatment-medication/genetic-testing
    Genetic testing
    Genetic testing may also be called DNA testing. It’s a type of test that can identify changes in the genes, chromosomes or proteins in your body. Genetic testing takes a sample of your blood, skin, hair, tissue or amniotic fluid. The test may be able to confirm or rule out if you have a genetic condition.
    my.clevelandclinic.org/health/diagnostics/23065-dn…
    Genetic testing
    Genetic testing is a broad term used to describe a medical test that identifies changes in a DNA sequence or chromosomal structure. Genetic testing can also measure results of gene changes, like an RNA analysis of a gene’s expression.
    www.healthline.com/health/genetic-testing
     
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  4. Genetic testing - Mayo Clinic

     
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  11. What are the different types of genetic tests?

    WEBJul 28, 2021 · Learn about the different types of genetic tests that can analyze changes in genes, chromosomes, or proteins. Find out how they are used to diagnose or rule out genetic conditions, and what …

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    WEBJul 21, 2023 · Learn what genetic testing is, how it works, and why you may need it. Find out about the types, risks, and benefits of DNA testing for medical and non-medical purposes.

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  23. Home - NIH Genetic Testing Registry (GTR) - NCBI

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