Short Description

NGS genetic DNA test detecets for variant and mutation detection in IL1RN gene for Osteomyelitis, sterile multifocal, with periostitis and pustulosis

PreTest Information

Clinical History of Patient who is going for IL1RN Gene Osteomyelitis, sterile multifocal, with periostitis and pustulosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IL1RN Gene Osteomyelitis, sterile multifocal, with periostitis and pustulosis NGS Genetic DNA Test gene IL1RN

Detail Description

IL1RN Gene Osteomyelitis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

IL1RN gene is responsible for encoding the IL-1 receptor antagonist (IL-1RA), which is an important cytokine involved in the regulation of the immune response. Osteomyelitis is a bone infection that can be caused by various bacteria, fungi, or viruses. The IL1RN gene mutation is associated with sterile multifocal osteomyelitis (SMO), which is a rare genetic disorder characterized by recurrent episodes of bone inflammation that may lead to bone deformities and fractures. The symptoms of SMO include:

• Bone pain
• Swelling and tenderness of the affected area
• Reduced mobility
• Fever
• Chills

SMO can also cause other conditions like periostitis (inflammation of the outer layer of the bone) and pustulosis (a skin disorder characterized by pustules). If left untreated, SMO can result in severe bone damage and disability.

Diagnosis of IL1RN Gene Osteomyelitis

Diagnosis of IL1RN gene osteomyelitis requires a thorough medical history, physical examination, and imaging tests like X-ray, MRI, or CT scan. Blood tests may also be done to check for signs of infection and inflammation. Genetic testing may be recommended to confirm the IL1RN gene mutation.

NGS Genetic DNA Test Cost for IL1RN Gene Osteomyelitis

Next-generation sequencing (NGS) is a powerful genetic testing tool that can identify mutations in the IL1RN gene. The cost of NGS genetic DNA test for IL1RN gene osteomyelitis in India is around INR 20,000. The test involves taking a blood or saliva sample from the patient, which is then analyzed in a laboratory to detect any genetic mutations.

Conclusion

IL1RN gene osteomyelitis is a rare genetic disorder that can cause recurrent bone inflammation and other related conditions. Early diagnosis and treatment are important to prevent bone damage and disability. Genetic testing, such as NGS, can help confirm the IL1RN gene mutation and guide treatment decisions. The cost of NGS genetic DNA test for IL1RN gene osteomyelitis in India is around INR 20,000.