Understanding Genetic Testing & Its Workings

How Testing Works

Step #1

Order online or schedule a genetic counseling session with your doctor, geneticist, or genetic counselor.

Step #2

Your doctor assesses the suitability of genetic testing for you or a family member based on clinical symptoms and medical history.

Step #3

Receive your results and discuss them with your doctor. If desired, engage with a genetic counselor for further guidance.

Genetic Testing

Unlocking Genes: The Science of Genetic Testing in Medical Labs

Genes consist of DNA instructions inherited from our parents. Variations or mutations within these genes can lead to various medical conditions. Some of these conditions are relatively rare while others are more common. Genetic tests serve the purpose of either confirming a diagnosis or providing insights into the potential development of a particular disease.

Genes are DNA instructions passed down from our ancestors.

Mutations in these genes can result in a range of medical conditions, from rare to common.

Genetic testing aids in confirming diagnoses and predicting disease risks.

When And Why Consider Genetic Testing?

Genetic testing becomes particularly relevant under the following circumstances

Presence of Symptoms or Suspected Genetic Condition:

If you or your family members exhibit symptoms that raise suspicion of a genetic disorder, genetic testing can provide crucial information.

Increased Risk for Disease:

Certain factors, such as lifestyle choices or environmental exposures, may elevate your risk for developing specific diseases.genetic testing can help determine your susceptibility to these conditions.

Family History of a Disease:

A family history that includes a particular disease may prompt the consideration of genetic testing, as it can help assess the risk of inheriting the condition.

Risk of Passing on Genetic Mutations:

If there is a concern about transmitting a genetic disease or mutation to your children, genetic testing can provide valuable insights into the likelihood of this occurrence.

Understanding Your Result

Negative Result Explanation

A negative result Indicates that a disease-causing mutation was not found, which may suggest that you or your family member:

Do not have the specific disorder in question.

Are not carriers of the particular genetic condition.

Are not at an elevated risk of developing a specific disease.

It's important to be aware that a negative result from a single test might not exclude all potential genetic variations associated with a particular condition. further testing may be required to confirm a negative result. We strongly recommend consulting your healthcare provider to discuss these findings, as each case is unique.

Positive Result Explanation

A positive result indicates the detection of a disease-causing mutation, which can:

Confirm a diagnosis for you or your family member.

Identify an increased risk of developing the condition in the future for you or your family member.

Reveal carrier status for a specific genetic condition.

Suggest that other family members should consider testing to understand their own risks. we strongly advise discussing a positive result with your doctor. Such findings may lead to discussions about potential new treatments or adjustments to current treatment plans.

Unclear Result Explanation

An unclear result indicates that a mutation was detected, but there is insufficient information in the medical literature to confirm whether it causes disease or represents normal variation in the population. Such changes are referred to as variants of unknown significance, or VUS.

An uninformative result

Confirm or rule out a specific diagnosis.

Indicate whether a person has an increased risk of developing a genetic condition.

In some cases, testing additional family members may help clarify this result, and this option should be discussed with your healthcare provider.

Understanding Genetic Testing & How It Works