Your Genetic Testing Journey

1. Choose the right test

Before testing, we will discuss your health, the reason for testing and relevant family history. This helps identify whether a genetic test is appropriate and which panel is most suitable.

2. Informed consent

Genetic testing can have implications for you and your relatives. Before proceeding, we will explain what the test can and cannot tell you, the possible types of result, and how the findings may affect future health decisions or family members.

3. Provide your sample

Depending on the test, a blood or saliva sample is collected and sent to a specialist laboratory for analysis.

4. Laboratory analysis

The laboratory examines selected genes or genetic variants linked to the condition or risk being investigated. Different tests look at different genes, so a result only relates to the genes and conditions included in the chosen panel.

5. Your results

Results may show:

• A pathogenic or likely pathogenic variant associated with a condition or increased risk
• No relevant variant identified
• A variant of uncertain significance (VUS), where there is not enough evidence to know whether a genetic change is clinically important

A VUS does not confirm a diagnosis and should not be used on its own to make treatment or screening decisions. A result with no relevant variant identified does not completely rule out a genetic cause.

6. Genetic counselling and next steps

Genetic counselling is included in the price of your test. Where appropriate, you will have access to a genetic counsellor to discuss the test, understand your result and consider what it may mean for you and your family.

Counselling can include discussion of:

• The benefits and limitations of testing
• The possible emotional impact of results
• Implications for children and other relatives
• Whether relatives may wish to seek advice or consider testing
• Recommended monitoring, specialist referral or further assessment where indicated