Genetic testing can tell if you're predisposed to getting a disease based on your genes. Genes tell your body's cells how to make and use proteins. Genetic testing looks for gene changes that can impact how your body works.
Genes and the proteins they code for determine physical traits like eye color and height. They also help your body make muscle, nerves, and organs and tell your body's systems how to function.
Genes play an essential role in your health. Mutations (changes) in your genetic code may increase your — or your baby's — risk for some health conditions. Genetic testing helps identify mutations affecting your or your baby's health.
Your genes are present in every cell in your body. They're packaged into structures called chromosomes, made up of DNA and protein molecules. The DNA molecules come in four different subunits, and the order of these subunits is the code that makes up our genes.
Genetic testing gives experts the information they need about changes in chromosomes, genes, and proteins to determine if you are at risk of inheriting a disease.
Some genetic tests look for specific changes in one or more genes. Some look for changes in chromosomes. Other tests look for differences across all of your genes.
Not everyone needs genetic testing. Some gene mutations pass from parent to child. If someone in your family has a genetic mutation, you are more likely to have the same mutation.
Other changes to genes happen spontaneously (on their own). If this happens, you may be the only person in your family with a specific gene mutation.
Having a gene mutation means you may be at greater risk for a genetic disorder or health condition. Genetic testing can tell you if you have the mutation. A genetic counselor can discuss what it means for your risk of disease.
Your doctor may recommend genetic testing to learn how your unique mutations affect your risk for inherited disorders. Genetic tests can also help you understand your risk for some cancers.
These tests may also help doctors understand why you may have:
You may also have genetic testing while you are pregnant. Genetic screening of the fetus can identify potential health issues in your baby.
Mutations could cause:
Understanding your unique gene mutations with genetic testing can teach you about your health, pregnancy, or your baby's health.
Genetic testing and counseling can help you:
Several genetic testing labs are located within the UPMC Center for Medical Genetics and Genomics. These laboratories provide a range of genetic tests to screen for and diagnose genetic diseases and inherited disorders.
Certain genetic changes increase your risk of developing breast, ovarian, or other cancers. If your parent has this mutation, you may also. It puts you at greater risk of developing a variety of cancers.
If you have relatives with cancer-related mutations or just a high number of cancers in your family, your doctor may recommend genetic testing to see if you have genetic mutations linked to cancer.
These tests most commonly screen for mutations in the following:
Doctors may also recommend genetic tests to diagnose or monitor blood cancers such as leukemia or lymphoma. The UPMC Cytogenetic Laboratory and the UPMC Clinical Genomics Laboratory perform genetic testing for these health conditions.
Your doctor may recommend genetic testing if someone in your family — or your partner's — has a genetic disease or inherited disorder and you're pregnant or thinking about getting pregnant.
Specialists in the UPMC Pregnancy Screening Laboratory offer a range of genetic testing before pregnancy (preconception) and during pregnancy (prenatal testing). Genetic counselors talk with you and your partner about further testing and options when screening tests indicate an increased risk of genetic disorders.
Genetic carrier screenings tell doctors if you or your partner have a copy of a gene mutation. When both parents have a copy of certain gene mutations, their baby may have a genetic disorder.
Carrier screening is usually done before getting pregnant, but it can provide helpful information after, as well.
Pregnancy genetic testing may be right for you if you:
Genetic testing during pregnancy helps specialists identify genetic mutations in the fetus before birth.
Genetic testing can help doctors diagnose:
Your doctor considers your personal and family health history when recommending genetic testing. If they suspect you or your baby has a specific genetic disorder, they consider the genetic mutations associated with it. Then, they recommend the genetic test that will provide the information they need to make a diagnosis.
Types of genetic tests include:
Specialists examine your body's proteins and how they function. Tests that show changes in proteins or their function may indicate mutations in the DNA, which can cause genetic disorders.
Experts may analyze a sample of your:
Experts analyze chromosomes to determine if they've undergone any structural changes.
Chromosomal changes may include:
Chromosomal tests can identify specific mutations in chromosomes.
Specialists may collect a chromosome sample through:
Specialists use molecular testing to determine if there is a single variant (changes in one specific gene) or a gene panel (changes in several genes).
They may collect a sample of your:
If you are pregnant, some of your baby's DNA circulates in your blood, known as prenatal cell-free DNA. Experts analyze prenatal cell-free DNA to learn if your baby may have a genetic disorder. This is called noninvasive prenatal testing.
Sometimes, doctors recommend whole genome sequencing, also called whole exome sequencing. These tests analyze all the genes in your body. Your doctor may recommend whole genome sequencing when other types of genetic testing don't provide enough information.
Talk to your doctor about genetic testing. You may need more than one type of genetic test. Alternatively, several family members may need genetic tests to get the information your doctor needs.
Costs for genetic testing vary by the type of test and your insurance coverage. Your doctor or genetic counselor can provide cost information for the specific genetic tests they recommend. Generally, depending on the complexity of the genetic test, costs may range from $100 to several thousand dollars.
Your health insurance policy may cover some types of genetic testing. Talk to your insurance provider to learn about coverage for the tests your doctor recommends.
Genetic testing has many benefits. You may decide to make different health decisions if you have a gene mutation that may increase your risk of developing cancer.
If you have a mutation that increases your risk of a certain cancer, you may:
If you're pregnant or thinking about becoming pregnant, genetic testing can help you understand your risk factors for:
If you have a risk of having a child with an inherited disorder, you can look into IVF and embryo screening as an option for conception.
Genetic testing can provide valuable information. Some tests can tell you only if you are at increased risk for a disease or for problems during pregnancy. An increased risk for a health condition means only that it may occur.
Some genetic tests diagnose health conditions. Before having genetic testing, it's important to consider what you will do if test results indicate a genetic disorder — especially in an unborn fetus. Talking with a genetic counselor can help you decide if you want to know this information.
Talk to your doctor about whether genetic testing is right for you. UPMC's genetic testing lab is here to help.
Last reviewed by a UPMC medical professional on 2024-09-05.
