Short Description

NGS genetic DNA test detecets for variant and mutation detection in LPIN2 gene for Majeed syndrome

PreTest Information

Clinical History of Patient who is going for LPIN2 Gene Majeed syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LPIN2 Gene Majeed syndrome NGS Genetic DNA Test gene LPIN2

Detail Description

LPIN2 Gene Majeed Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

Majeed syndrome is a rare genetic disorder that affects the skeletal system and skin. It is caused by mutations in the LPIN2 gene, which provides instructions for making an enzyme called lipin-2. Lipin-2 plays a role in the metabolism of fats and the regulation of immune system function. LPIN2 gene mutations lead to a reduction in lipin-2 activity, which causes the symptoms of Majeed syndrome.

Symptoms of Majeed Syndrome

Majeed syndrome is characterized by recurrent episodes of fever, inflammation of the bones and joints, and skin lesions. The fever typically lasts for several days and is accompanied by severe pain in the affected bones and joints. The skin lesions are usually red, raised, and tender to the touch. They can occur anywhere on the body but are most commonly found on the palms of the hands and soles of the feet.

In addition to these primary symptoms, Majeed syndrome can also cause growth retardation, osteoporosis, and anemia. Some individuals with Majeed syndrome may also develop hearing loss, vision problems, or kidney disease.

Diagnosing Majeed Syndrome

Majeed syndrome is diagnosed based on a combination of clinical symptoms and genetic testing. A doctor will perform a physical examination to look for signs of inflammation, bone and joint pain, and skin lesions. Blood tests can also be done to check for markers of inflammation and anemia.

To confirm a diagnosis of Majeed syndrome, a genetic test is required. This test looks for mutations in the LPIN2 gene using a technique called next-generation sequencing (NGS). NGS is a high-throughput method that can analyze the entire gene sequence in a single test. It is more sensitive and accurate than traditional genetic testing methods.

Cost of LPIN2 Gene Majeed Syndrome NGS Genetic DNA Test in India

The cost of the LPIN2 gene Majeed syndrome NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the specific laboratory or testing facility. Some insurance plans may cover the cost of genetic testing, so it is worth checking with your provider to see if this is an option.

Conclusion

Majeed syndrome is a rare genetic disorder that can cause fever, bone and joint pain, skin lesions, and other symptoms. It is caused by mutations in the LPIN2 gene, which can be detected using next-generation sequencing genetic testing. The cost of this test in India is approximately INR 20,000. If you or a loved one is experiencing symptoms of Majeed syndrome, it is important to speak with a doctor and consider genetic testing to confirm a diagnosis and explore treatment options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS testing for Majeed syndrome. Our team of experts can help you understand the testing process, interpret your results, and provide personalized guidance based on your unique situation. Contact us today to learn more.