Genetic testing is the testing of an individual’s DNA to identify changes in their chromosomes, genes, or proteins.
It may identify if an individual has a specific genetic condition, is at risk of developing a genetic condition, or if they are a carrier of a genetic mutation.
Understanding genetic testing for genetic syndromes.
Individuals or families may be referred for genetic analysis and then genetic testing for rare diseases –
- If there is a family history of inherited genetic conditions
- Following abnormal test results during standard prenatal testing
- If a person is displaying symptoms or features of a particular genetic condition or an unknown condition.
Types of Testing
Several genetic tests are currently standard across the US. These include screenings of newborns for conditions including phenylketonuria (PKU) or sickle cell anemia.
Routine prenatal genetic testing includes screening for Down syndrome through the nuchal translucency test.
Genetic screening is also increasingly common during the IVF process’s pre-implementation period to determine if a fetus is healthy before being implanted.
Simultaneously, some tests are to screen populations at risk, and some tests are for a genetic diagnosis of a rare disease.
How is the testing performed?
The testing process will begin with genetic counseling. It is highly recommended that genetic counseling be started before any tests are planned. Genetic counseling can help walk families and individuals through the screening process and help them to understand better which tests might be the most relevant according to their needs. It will also help prepare individuals and families for the possibility of a positive test result and the future health and mental implications of such.
The testing may involve taking a blood sample and or a cheek swab. A medical geneticist should conduct it. In prenatal testing, it may involve testing blood taken from the mother or a sample taken from the amniotic fluid or tissues (chorionic villi) around the developing fetus.
Moving forward in your diagnostic journey
Testing may help with the diagnosis of a particular syndrome. However, what it can not determine is how a rare disease and its symptoms may affect a specific individual. In many cases, testing is not the end of the diagnostic odyssey, as further counseling and support, including treatment, if available, will be necessary.
Genetic testing for rare diseases is an important step in a patient’s diagnostic journey. It should always be accompanied by genetic counseling and expert support. With the help of a genetic counselor you or your loved one will be able to detect certain symptoms that could potentially correspond with a rare syndrome.
Try our Child Development Checker app to assess developmental delays and potential genetic concerns from the comfort of your home. This user-friendly tool analyzes your child’s development and flags early signs of concern. Additionally, the “Connect to Expert” feature provides personalized support from genetic professionals. These resources empower you to take proactive steps in your child’s unique developmental journey.
