How Genetic Screening Test Is Done - PowerPoint PPT Presentation

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How Genetic Screening Test Is Done

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Here is a brief description about the process and the need of getting genetic screening test – PowerPoint PPT presentation

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Title: How Genetic Screening Test Is Done


1
HOW GENETIC SCREENING TEST IS DONE
2
WHAT IS GENETIC SCREENING TEST
  • Genetic testing is also known as DNA testing.
  • It is a type of medical test that identifies
    changes in chromosomes, genes, or proteins. 
  • The results of a genetic test can confirm
    suspected genetic condition or help determine a
    persons chance of developing or passing on a
    genetic disorder. 
  • Today, tests involve analyzing multiple genes to
    determine the risk of developing specific
    diseases or disorders, with the more common
    diseases consisting of heart disease and cancer.

3
GENETIC TESTING METHODS
  • There are several methods of doing genetic
    testing. Some of the main methods are
  • Molecular genetic tests study single genes or
    short lengths of DNA to identify variations or
    mutations that lead to a genetic disorder.
  • Chromosomal genetic tests analyze whole
    chromosomes to see if there are large genetic
    changes, such as an extra copy of a chromosome,
    that cause a genetic condition.
  • Biochemical genetic tests study the amount or
    activity level of proteins abnormalities in
    either can indicate changes to the DNA that
    result in a genetic disorder.

4
HOW GENETIC TESTING IS DONE
  • Before a person has a genetic test, it is
    important that he or she understands the testing
    procedure, the benefits and limitations of the
    test, and the possible consequences of the test
    results.
  • The results of genetic testing may bring with
    them the need to make important, life-changing
    decisions.
  • Genetic testing goes hand-in-hand with genetic
    counselling, both before and after testing.

5
THE PROCESS OF GENETIC TESTING
  • Genetic screening test involves carrying out a
    range of tests on samples of DNA taken from
    blood, hair, skin, saliva, amniotic fluid and
    other tissues.
  • The DNA sample is then sent to the laboratory
    where scientists look for specific changes in the
    DNA to find and identify any genetic disorders.
  • The laboratory reports the test results in
    writing to a person's doctor or genetic
    counsellor, or directly to the patient if
    requested.
  • There are currently more than 2,000 genetic tests
    in use and more are in development.

6
GENETIC TESTING FOR NEW BORNS
  • Newborn screening tests are done on a small blood
    sample
  • The blood sample is taken by pricking the baby's
    heel.
  • Here, the parent will only receive the result if
    it is positive.
  • If the test result is positive, additional
    testing is needed to determine whether the baby
    has a genetic disorder.

7
THE NEED OF GENETIC TESTING
  • It is generally performed in a particular
    individual or family for a specific medical
    purpose. The purposes can be
  • For screening embryo for a genetic disease.
  • For finding a genetic disease in an unborn baby.
  • For finding out if parents carry a
    genetic mutation, that they could pass onto their
    future children.
  • For determining the best dose or type of medicine
    to give an individual patient based on their
    genetics.

8
CONCLUSION
  • Genetic testing is an incredibly useful tool for
    identifying changes or mutations in DNA that
    could lead to genetic disease.
  • The physical risks associated with most genetic
    tests are very small, particularly for those
    tests that require only a blood sample or buccal
    smear.
  • A genetics professional can explain in detail the
    benefits, risks, and limitations of a particular
    test.
  • It is important that any person who is
    considering genetic testing understand and weigh
    these factors before making a decision.

9
THANK YOU
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