Short Description

NGS genetic DNA test detecets for variant and mutation detection in IRAK4 gene for IRAK4 deficiency

PreTest Information

Clinical History of Patient who is going for IRAK4 Gene IRAK4 deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IRAK4 Gene IRAK4 deficiency NGS Genetic DNA Test gene IRAK4

Detail Description

IRAK4 Gene Deficiency: Symptoms, Diagnosis, and Genetic Testing Cost

IRAK4 (Interleukin-1 receptor-associated kinase 4) is a gene that is responsible for producing a protein that plays a crucial role in the immune system. It is involved in the activation of immune cells and the production of cytokines, which are molecules that help to fight off infections and other foreign invaders.

However, some individuals may have a deficiency in the IRAK4 gene, which can lead to a weakened immune system and an increased susceptibility to infections. In this blog post, we will discuss the symptoms and diagnosis of IRAK4 deficiency, as well as the cost of genetic testing for this condition.

Symptoms of IRAK4 Deficiency

IRAK4 deficiency is a rare genetic condition that affects the immune system. Individuals with this condition may experience recurrent infections, particularly bacterial infections of the respiratory tract, skin, and ears. These infections may be severe and difficult to treat.

Other symptoms of IRAK4 deficiency may include:

• Fever
• Chronic diarrhea
• Failure to thrive
• Enlarged lymph nodes
• Recurrent abscesses

It is important to note that the symptoms of IRAK4 deficiency may vary from person to person, and not all individuals with this condition will experience the same symptoms.

Diagnosis of IRAK4 Deficiency

IRAK4 deficiency is diagnosed through genetic testing, which can detect mutations in the IRAK4 gene. This testing is typically done using next-generation sequencing (NGS) technology, which can analyze multiple genes at once.

If a mutation is detected in the IRAK4 gene, additional testing may be done to confirm the diagnosis and evaluate the extent of the immune system dysfunction. This may include blood tests to assess immune cell function and antibody levels, as well as imaging studies to evaluate the lymph nodes and other organs.

Cost of Genetic Testing for IRAK4 Deficiency

The cost of genetic testing for IRAK4 deficiency can vary depending on the specific test and the laboratory performing the test. However, on average, the cost of NGS testing for IRAK4 deficiency in India is around INR 20,000.

It is important to note that genetic testing for IRAK4 deficiency may not be covered by insurance, and individuals may need to pay for the testing out of pocket.

Conclusion

IRAK4 deficiency is a rare genetic condition that can lead to recurrent infections and a weakened immune system. Diagnosis of this condition is done through genetic testing, which can detect mutations in the IRAK4 gene. The cost of genetic testing for IRAK4 deficiency in India is around INR 20,000. If you are experiencing symptoms of IRAK4 deficiency or have a family history of this condition, it is important to speak with a healthcare provider to discuss testing and treatment options.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for IRAK4 Gene IRAK4 deficiency NGS Genetic DNA Test