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.

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

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.

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

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.

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.

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.

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.

Differential diagnosisThis means to narrow down the possibilities

and choose the most appropriate genetic tests to pursue.

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.

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.

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.

Exit slipComplete the following statement on loose

leaf and turn in in to me

Today I learned that