Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYBA gene for Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PreTest Information

Clinical History of Patient who is going for CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic DNA Test gene CYBA

Detail Description

DNA Labs India: CYBA Gene Granulomatous Disease - Symptoms, Diagnosis, and Genetic Testing Cost

CYBA Gene Granulomatous Disease is a rare genetic disorder that affects the immune system, resulting in chronic inflammation and the formation of granulomas - small clusters of immune cells that accumulate in different parts of the body. This condition is caused by mutations in the CYBA gene, which encodes a protein called p22phox that is essential for the normal functioning of immune cells.

Symptoms of CYBA Gene Granulomatous Disease

The symptoms of CYBA Gene Granulomatous Disease can vary depending on the severity of the condition and the organs affected by the granulomas. Some common symptoms include:

• Recurrent infections, especially in the lungs, skin, and lymph nodes
• Fever, fatigue, and weight loss
• Enlarged liver or spleen
• Bone pain or fractures
• Eye inflammation or vision loss
• Neurological symptoms, such as seizures or paralysis

These symptoms can appear at any age, but they usually develop in early childhood or adolescence.

Diagnosis of CYBA Gene Granulomatous Disease

Diagnosing CYBA Gene Granulomatous Disease can be challenging because it is a rare condition and its symptoms can be similar to those of other diseases. However, several tests can help identify the presence of granulomas and confirm the diagnosis:

• Chest X-ray or CT scan to detect lung granulomas
• Skin biopsy to analyze the granulomas under a microscope
• Blood tests to measure the levels of immune cells and antibodies
• Genetic testing to detect mutations in the CYBA gene

Genetic testing is the most reliable way to diagnose CYBA Gene Granulomatous Disease, as it can detect the specific genetic mutations that cause the condition. This testing is usually done using Next-Generation Sequencing (NGS) technology, which can analyze multiple genes simultaneously and provide accurate results.

Genetic Testing Cost for CYBA Gene Granulomatous Disease

The cost of genetic testing for CYBA Gene Granulomatous Disease can vary depending on the laboratory and the type of test performed. In India, DNA Labs India offers NGS-based genetic testing for CYBA Gene Granulomatous Disease at a cost of INR 20,000. This test can detect mutations in the CYBA gene with high accuracy and help diagnose the condition early, allowing for prompt treatment and management.

Conclusion

CYBA Gene Granulomatous Disease is a rare genetic disorder that can cause chronic inflammation and granuloma formation in different parts of the body. Its symptoms can be diverse and challenging to diagnose, but genetic testing can provide accurate results and help identify the specific mutations that cause the condition. DNA Labs India offers NGS-based genetic testing for CYBA Gene Granulomatous Disease at an affordable cost, providing an essential tool for early diagnosis and management of this rare disease.

For more information and to schedule a genetic test, visit DNA Labs India.