Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for genetic conditions, such as pheo and para, or information about your risk to develop cancer.
Pheo and para are caused by inherited genetic mutations more often than any other cancerScientists have identified more than 20 genetic mutations that may make pheo and para more likely.
of cases are linked to 1 of over 20 different genes
of cases are linked to a
is the lifelong risk for pheo and para tumors based on the genetic mutation
people with a pheo or para genetic mutation are the first in their family to get it
Genetic testing and you
What is genetic testing?
Why should you be tested?
Newborn screening just after birth to identify genetic disorders that can be treated early in life.
Diagnostic testing to identify or rule out a specific genetic or chromosomal condition, or to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms.
Carrier testing for individuals who have a family history of a genetic disorder, and people in certain ethnic groups with an increased risk of specific genetic conditions.
Prenatal testing to detect changes in a fetus’ genes or chromosomes before birth.
How does testing work?
Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. There are many types of genetic tests, and no single test can detect all genetic conditions. For example:
Buccal smear is a procedure which uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. Based on the potential illness, the sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins. The laboratory reports the test results in writing to a person’s doctor or genetic counselor, or directly to the patient, if requested.
Living with pheo and para
Dave Bassham and endocrinologist, Dr. Dillon, talk about why genetic testing is a key to learning about pheo and para gene mutations.
Genetic test resultsA good way to think about genetic testing is as if you’re asking the DNA a question Sometimes the answer isn’t found because the right question isn’t asked. Sometimes, it’s because science hasn’t found the answer.
Types of answers genetic tests provide include:
If you have a family history or symptoms of pheo or para, or are interested in learning about your chance of getting these diseases, talk to your doctor about whether genetic testing is right for you.Scientists continue to identify new mutations.
If you received genetic testing many years ago and tested negative, consider asking your doctor if retesting could reveal new information. You may also need to undergo repeat genetic testing.