What is Genetic Testing?

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 disease if there is a family history of inherited genetic conditions, or following abnormal test results during standard prenatal testing, or if a person is showing symptoms or features of a particular genetic condition or an unknown condition. 

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 concrete diagnosis. 

Genetic testing

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 proposed or 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

A genetic test may help with the diagnosis of a particular syndrome. Still, it will not determine which symptoms or their severity and how they might affect an 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 disease is an important step in a patient’s diagnostic journey. And it should always be accompanied by genetic counseling and support. 


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