Familial Mediterranean Fever (FMF-12)

This test looks for a panel of 12 common variants in the MEFV gene, the gene associated with Familial Mediterranean Fever (FMF). FMF is an inherited condition that causes recurrent episodes of fever together with inflammation, often felt as pain in the abdomen, chest, or joints. It is most common in people of Mediterranean and Middle Eastern ancestry, including Armenian, Turkish, Arab, and Sephardic Jewish backgrounds. This test uses a reliable method (PCR hybridisation) to detect the most common MEFV variants that cause the condition.

What it can help assess

• Supporting a diagnosis of FMF: in people with symptoms such as recurrent unexplained fevers and inflammation, identifying MEFV variants can help confirm the cause
• Carrier status: identifying whether you carry an MEFV variant, which is relevant for family planning
• Understanding family risk: particularly relevant if you have a family history of FMF or symptoms suggestive of it, or belong to a higher-risk ancestral group

Understanding the results

FMF is usually inherited in a recessive pattern, meaning a person typically needs to inherit two faulty copies of the MEFV gene, one from each parent, to be affected. This test can identify:

• No variants detected: none of the 12 variants on the panel were found
• One variant (carrier): you carry one variant. Carriers usually have no or only mild symptoms, but can pass the variant on to their children
• Two variants: consistent with FMF, which would need to be confirmed clinically alongside your symptoms

An important note on interpretation

This test covers 12 of the most common MEFV variants but not every possible one, so a negative result greatly reduces, but does not completely rule out, FMF or carrier status. FMF is also ultimately a clinical diagnosis, meaning genetic results are always interpreted alongside your symptoms and history. Some people with symptoms carry only one variant, and the significance of results is not always straightforward. Because this is a genetic test with lifelong implications for you and your relatives, any positive or significant result should be discussed with your GP or a specialist, who may recommend genetic counselling.

Why it matters

FMF can cause distressing and recurrent symptoms and, if left untreated over many years, can lead to complications affecting the kidneys. Identifying the condition allows for effective treatment that can control symptoms and reduce the risk of long-term complications. Genetic testing can be a valuable part of reaching a diagnosis, particularly where symptoms and family history point towards FMF.

• MEFV gene, 12-variant panel (by PCR hybridisation)

No special preparation required.

For blood tests, we recommend drinking plenty of water beforehand to ensure smooth sample collection. If you are taking any regular medication, continue to do so unless advised otherwise by your doctor.