Familial Mediterranean Fever (FMF-12)

Service Description

This test check for 12 genetic inherited disorders that causes recurrent episodes of fever, inflammation, and pain in the abdomen, chest, and joints. The condition is most commonly seen in people of Mediterranean ancestry, including individuals from Armenia, Turkey, and other countries in the Middle East and North Africa. FMF is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin. Pyrin is involved in the regulation of inflammation and the immune response, and mutations in the MEFV gene can disrupt this process, leading to episodes of inflammation and fever. The MEFV gene has 10 exons. An exon is a section of a gene that codes for part of the final protein. Exon 10 of the MEFV gene is the most clinically important as the serious disease-causing mutations occur there. Common MEFV mutations with the associated amino acid change and exon locations: MUTATIONS AT EXON 10 M694V : Methionine → Valine (Most severe form of FMF; high risk of amyloidosis and early onset) M694I : Methionine → Isoleucine (Less common; variable severity) V726A : Valine → Alanine (Milder symptoms; common in Armenian and Ashkenazi Jewish) M680I : Methionine → Isoleucine (Moderate to severe FMF; often seen in North African Jewish) R761H : Arginine → Histidine (Mild to moderate FMF) K695R : Lysine → Arginine (Mild or incomplete FMF symptoms) A744S : Alanine → Serine (Low penetrance) I692del: Isoleucine deleted (In-frame deletion) R653H : Arginine → Histidine (Missense) MUTATIONS AT EXON 5 F479L : Phenylalanine → Leucine (Milder FMF) MUTATIONS AT EXON 3 P369S : Proline → Serine ( Low-penetrance mutation) MUTATIONS AT EXON 2 E148Q : Glutamic acid → Glutamine (Benign polymorphism;) E167D : Glutamic acid → Aspartic acid (Conservative missense) The symptoms of FMF typically begin in childhood, although they can appear at any age. The most common symptoms include: -Recurrent fever, typically lasting 1-3 days -Abdominal pain and inflammation -Painful joints -Chest pain and inflammation -Skin rashes Episodes of FMF can be triggered by stress, infections, or other factors, and can vary in frequency and severity. Treatment for FMF typically involves medications that reduce inflammation and fever. Genetic testing for FMF may be recommended for individuals with a personal or family history of the condition, or for individuals who are at increased risk due to their ethnic background. Sample: BLOOD Results: 2 WEEKS Phlebotomy fee:£0