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Aim: How are Genetic Disorders Diagnosed?

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.

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Aim: How are Genetic Disorders Diagnosed?

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  1. 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?

  2. What would you do?

  3. (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

  4. 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.

  5. 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

  6. Personal medical history • Information 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.

  7. Family medical history • Because 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.

  8. 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.

  9. 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.

  10. Differential diagnosis • This means to narrow down the possibilities and choose the most appropriate genetic tests to pursue.

  11. 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.

  12. 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.

  13. 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.

  14. Exit slip • Complete the following statement on loose leaf and turn in in to me • Today I learned that

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