Genetic diseases are caused by abnormalities within a person’s genes, or DNA (material in our cells), ranging from a small mutation in one gene to a significant change in volume or structure of an entire chromosome or set of chromosomes. These abnormalities may also be referred to as “pathogenic variants” and are often passed down to children from parents. Such abnormalities can have a negative impact on the function of a vital bodily system, such as the nervous system or immune system – or it can prevent the development of organs or bones. Genetic testing plays an important role in the diagnosis and treatment of genetic conditions.
What Is Genetic Testing?
Genetic testing is a useful type of medical test that looks at a person’s DNA with the intent of identifying any specific mutations that could cause a medical condition. Genetic testing can offer an early diagnosis to warn a patient and their caregiver of a condition or to solidify a suspected diagnosis.
Genetic testing can be done for various different reasons , including:
- Diagnostic testing is done for those who experience symptoms of disease that may be caused by genetic changes or mutations. Genetic testing can reveal if a person has the suspected disorder, such as Huntington’s disease or cystic fibrosis.
- Predictive and presymptomatic testing is done if a person has a family history of a genetic condition. This test is often performed before symptoms appear to show if a person is at risk for developing the condition, such as identifying if a person is at risk for developing certain types of cancer.
- Carrier testing is done if a person has a family history of certain genetic conditions, such as cystic fibrosis or sickle cell anemia. Expanded carrier screening tests can also detect genes associated with many genetic diseases and mutations to determine if a person and his or her partner are carriers for the same conditions.
- Prenatal testing is administered when a woman is pregnant in order to detect certain abnormalities in a baby’s genes, such as trisomy 18 syndrome and down syndrome. Today, this is typically done today by looking at markers in a mother’s blood by way of blood draw. An older method of determining such information is by way invasive testing such as amniocentesis.
- Pharmacogenetics is another type of genetic testing for those who have a particular disease or health condition in order to determine the best medication and dosage for effective treatment.
What Are the Benefits of Genetic Testing?
There are many benefits of genetic testing. Genetic testing is the only way for medical professionals to make an accurate diagnosis while avoiding unnecessary clinical interventions and investigations. It can also guide clinicians to choose therapy that is best suited for the patient. In some cases, genetic testing can enable medical practitioners to offer surveillance and early intervention to save the life of a person (in cases such as hereditary cancer). Genetic testing can also be useful for future family planning.
Many major life decisions are based on genetic test results, so the accuracy of genetic tests is of grave importance. Only accredited, high quality labs that employ quality assurance should be trusted to perform genetic tests. An accurate diagnosis for a genetic condition can give a person a better chance of finding treatment early on in addition to necessary support. Genetic tests can also warn a person of the likelihood of developing conditions later in life, so a person knows to go for more regular checkups or take measures to reduce the risk of the development of a condition. CRC Labs is California’s trusted quality and affordable laboratory service, offering genetic testing you can trust. Reach out to us today to find out more about how genetic testing can help you or to book a genetic test today.