FAQ Genetic Testing

What is Genetic Testing?

To determine whether you possess a genetic condition, you can undergo genetic testing. Genetic testing examines genetic changes, also called variants or mutations, in the DNA of the individual being evaluated. Certain gene changes can lead to other health conditions or diseases. People inherit their DNA from their parents, meaning any genetic changes from one’s parents can be passed down to the individual. If your family’s medical history suggests that someone in your family either has or has had a certain genetic disease, you could get tested to determine if you have the genetic marker for the disease.

Genetic testing can provide valuable insight into whether an individual has a genetic condition or not. Undergoing a genetic test can give an individual and their family a diagnosis and can help them make an informed decision about their future medical care. Genetic testing can enable people to evaluate the risk of inheriting genetic conditions or confirm diagnoses. This can help in evaluating the treatment options for the condition.

How does a genetic test get done?

Individuals can get a test by consulting a healthcare specialist about their symptoms and family history. They can help decide if genetic testing is right for them. A rare disease expert can also help navigate the perils of understanding and managing complex health challenges. This ensures patients receive the right diagnoses, treatment options, and support systems personalized to their needs. More information on rare disease experts can be found at the Genetic and Rare Diseases Information Center (GARD).

Genetic tests either require a whole blood sample, a swab of the inside of the cheek, and/or a saliva sample. One genetic test for HSAN1E and other variants of the disease is a Next Generation Sequencing (NGS) panel that analyzes the 20 most common genetic causes of HSAN1E. NGS is a method of reading the DNA code that maps out the entire human genome and detects any mutations within it. After the results are received, your healthcare provider will explain what they mean, discuss any potential implications for your health and treatment options, and provide guidance on any necessary next steps.

What can a genetic test tell you?

There are several reasons you might want to consider getting a genetic test done, including:

• Discovering whether you have a genetic condition: You may be the first in your family to discover that you have a genetic condition. Knowing can be helpful for other family members.
• Confirming a genetic condition in the family: This can be beneficial because you can confirm it before developing symptoms.
• Guiding your treatment plan: If you discover that you have a genetic condition, you can now take the steps to create a treatment plan.
• Figuring out if your offspring would have the same genetic condition: This can help you decide whether to have children or what percentage future children are at risk for carrying the condition.

What are the types of genetic tests?

Genetic tests differ in the number of genes that are evaluated and their purpose. We detail a few different kinds below:

• Single-gene testing tests for changes in a specific gene of interest. It can be chosen when a person is aware of a genetic condition in their family and would like to know if they too carry the gene variant.
• Genetic testing panels test for multiple gene changes. If someone is suspected to be predisposed to a disease that runs in their family, they may be inclined to perform a genetic testing panel.
• Large-scale genomic testing includes two subtypes: exome sequencing and whole gene sequencing. Exome sequencing is more targeted and focuses on protein-coded genes. Whole genome sequencing examines all of an individual’s DNA
• Prenatal genetic testing is a type of genetic screening typically performed through ultrasound, blood draw, and/or amniotic fluid collection as early as the tenth week of pregnancy.