aim: how are genetic disorders diagnosed?
DESCRIPTION
Aim: How are Genetic Disorders Diagnosed?. Do now: How would you find out that you, a friend or a family member might have any disease? . What would you do?. (Recap) What are genetic Diseases?. A genetic disease is any disease that is caused by an abnormality in an individual's genome. - PowerPoint PPT PresentationTRANSCRIPT
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Aim: How are Genetic Disorders Diagnosed?
Do now: How would you find out that you, a friend or a family member might have any
disease?
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What would you do?
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(Recap) What are genetic Diseases?A genetic disease is any
disease that is caused by an abnormality in an individual's genome.
Can range from small mutations in a single base to huge chromosome abnormality such as extra or missing chromosomes
Some are inherited others are caused by acquired mutations
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What would a doctor do?A doctor may suspect a diagnosis of a genetic
condition on the basis of a person’s physical characteristics and family history, or on the results of a screening test.
Genetic testing is one of several tools that doctors use to diagnose genetic conditions.
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Physical examination Certain physical characteristics, such as
distinctive facial features, can suggest the diagnosis of a genetic disorder. May include measurements: circumference of
the head, the distance between the eyes, and the length of the arms and legs.
Specialized examinations: neurological and eye exams.
Imaging studies: x-rays, CT scans, MRI
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Personal medical historyInformation about an individual’s health,
often going back to birth, can provide clues to a genetic diagnosis.
Includes past health issues, hospitalizations and surgeries, allergies, medications, and the results of any medical or genetic testing that has already been done.
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Family medical historyBecause genetic conditions often run in
families, information about the health of family members can be a important for diagnosing these disorders.
Health conditions in an individual’s parents, siblings, children, and possibly more distant relatives.
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Laboratory tests Including genetic testing: Molecular,
chromosomal, and biochemical genetic testing are used to diagnose genetic disorders.
Other laboratory tests that measure the levels of certain substances in blood and urine can also help suggest a diagnosis.
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Would these test detect all disorders? Genetic testing is currently available for
many genetic conditions. Some conditions do not have a genetic test;
either the genetic cause of the condition is unknown or a test has not yet been developed. In these cases, a combination these tests may be used to make a diagnosis.
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Differential diagnosisThis means to narrow down the possibilities
and choose the most appropriate genetic tests to pursue.
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How can a Diagnosis affect the family?A genetic diagnosis can also suggest whether
other family members may be affected by or at risk of a specific disorder.
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When can a diagnosis be made?A diagnosis of a genetic disorder can be
made anytime during life, from before birth to old age, depending on when the features of the condition appear and the availability of testing.
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Does a Diagnosis mean treatment is available?Sometimes, having a diagnosis can guide
treatment and management decisions. Even when no treatment is available having a
diagnosis can help people know what to expect and may help them identify useful support.
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Exit slipComplete the following statement on loose
leaf and turn in in to me
Today I learned that