Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYBB gene for Granulomatous disease, chronic, X-linked

PreTest Information

Clinical History of Patient who is going for CYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic DNA Test gene CYBB

Detail Description

CYBB Gene Granulomatous Disease: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Granulomatous diseases are a group of disorders that cause inflammation and the formation of granulomas, which are clumps of immune cells that build up and can damage tissues. One of these diseases is chronic granulomatous disease (CGD), which is caused by a genetic mutation that affects the immune system's ability to fight off certain types of bacteria and fungi.

CGD is a rare disorder that primarily affects males and can be X-linked, meaning that the mutated gene is located on the X chromosome. One of the genes associated with X-linked CGD is the CYBB gene, which provides instructions for making a protein that is essential for the immune system to function properly.

Symptoms of CYBB Gene Granulomatous Disease

The symptoms of CYBB gene granulomatous disease can vary in severity and may include:

• Recurrent bacterial and fungal infections, particularly in the lungs, skin, and lymph nodes
• Fever and chills
• Swollen glands
• Chronic diarrhea
• Failure to thrive in infants
• Delayed growth and development
• Development of granulomas in various organs

These symptoms can appear in early childhood, and the severity of the disease can vary depending on the specific mutation in the CYBB gene.

Diagnosis of CYBB Gene Granulomatous Disease

The diagnosis of CYBB gene granulomatous disease typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. A doctor may suspect CGD in a patient who has a history of recurrent infections and granulomas. Laboratory tests can confirm the presence of immune system dysfunction, and genetic testing can identify mutations in the CYBB gene.

NGS Genetic DNA Test Cost in India

Next-generation sequencing (NGS) is a type of genetic testing that can identify mutations in multiple genes, including the CYBB gene. NGS testing can provide a more comprehensive evaluation of a patient's genetic profile and may be recommended for individuals with suspected CGD or other immune system disorders.

The cost of NGS genetic DNA testing in India can vary depending on the specific laboratory and testing method used. On average, the cost of NGS testing for CGD can range from INR 15,000 to INR 25,000.

Conclusion

CYBB gene granulomatous disease is a rare disorder that can cause recurrent infections, granulomas, and other symptoms. Early diagnosis and treatment can help manage the symptoms and prevent complications. NGS genetic DNA testing can provide a more comprehensive evaluation of a patient's genetic profile and may be recommended for individuals with suspected CGD or other immune system disorders.