Genes are the blueprint to create a person. Genes are passed from parents to their biological children. Sometimes, there is a change in a gene called a “pathogenic variant” (previously called a mutation). These changes can cause something in the body or mind to work differently, called a “genetic disorder.” A child can inherit a change in their genes from one or both biological parents.
There are three types of genetic disorders:
There are many types of genetic disorders. The National Human Genome Research Institute has a long list. Some are more common. Others are rare.
The U.S. National Library of Medicine has this list of basic genetic terms and their definitions.
There are over 2,000 tests that can diagnose genetic disorders. Doctors test a person's blood and other body tissue.
A doctor might recommend a genetic test to:
All babies have a newborn screening test soon after birth. A healthcare provider takes a few drops of blood from a baby’s heel and sends them to the state for testing. Texas screens the newborn’s blood for over 55 medical conditions. Baby’s First Test has information about the medical conditions Texas screens for.
People have different reasons for being tested or not being tested for genetic disorders during their lives. For some, if a test is positive, it is important to know if a disease or disorder can be treated or complications prevented. For some conditions where there is no treatment, test results might help a person make life decisions, such as family planning or insurance coverage. A genetics doctor or genetic counselor can help you make a decision about testing yourself or your child. The National Society of Genetic Counselors has a search to find a genetic counselor in your area. You can also ask other parents or a family doctor for names.
Sometimes, your child may have more than one type of genetic test. Parents have told us that they have asked for different tests in their search for answers about their child’s symptoms or condition. In a small number of cases, a test might come back with a “variant of unknown significance” result. This means that a certain gene looks different, but that gene might or might not cause problems for the child.
There are many types of genetic disorders. Each one has its own treatment options. For some genetic disorders, there is no known treatment.
A pediatric geneticist is a specialist who helps to diagnose and treat genetic disorders in children. Texas Department of State Health Services (DSHS) has an excellent web page about pediatric geneticists, what they do and how they can help.
See a pediatric geneticist if your child has:
Pediatric geneticists might also work with genetic counselors.
These organizations have information that might help your child and family: