Short Description

NGS genetic DNA test detecets for variant and mutation detection in IKBKB gene for Immunodeficiency type 15

PreTest Information

Clinical History of Patient who is going for IKBKB Gene Immunodeficiency type 15 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IKBKB Gene Immunodeficiency type 15 NGS Genetic DNA Test gene IKBKB

Detail Description

IKBKB Gene Immunodeficiency Type 15 NGS Genetic DNA Test

Immunodeficiency type 15 is a rare genetic disorder caused by mutations in the IKBKB gene. The IKBKB gene provides instructions for making a protein called IKKβ, which plays a crucial role in the immune system. IKKβ regulates the activity of other proteins that control the body's response to infections and other threats.

Individuals with immunodeficiency type 15 have a weakened immune system, which makes them more susceptible to infections. They may also experience chronic inflammation, which can damage tissues and organs over time.

Symptoms of Immunodeficiency Type 15

The symptoms of immunodeficiency type 15 can vary widely depending on the specific mutation in the IKBKB gene. However, common symptoms include:

• Recurrent infections, particularly of the respiratory tract, skin, and urinary tract
• Chronic inflammation, which may cause swelling, pain, and redness
• Autoimmune disorders, such as rheumatoid arthritis and lupus
• Growth and developmental delays
• Increased risk of cancer

Diagnosis of Immunodeficiency Type 15

Immunodeficiency type 15 is typically diagnosed through genetic testing. A sample of the patient's DNA is analyzed to look for mutations in the IKBKB gene. This can be done using a variety of techniques, including:

• Sanger sequencing
• Next-generation sequencing (NGS)
• Whole exome sequencing (WES)
• Whole genome sequencing (WGS)

NGS is a particularly useful technique for diagnosing immunodeficiency type 15 because it allows for the simultaneous analysis of multiple genes, which can help identify other potential genetic causes of the patient's symptoms.

Cost of IKBKB Gene Immunodeficiency Type 15 NGS Genetic DNA Test

The cost of the IKBKB Gene Immunodeficiency Type 15 NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the specific testing facility and any additional tests or services that may be required.

Conclusion

Immunodeficiency type 15 is a rare genetic disorder that can cause a wide range of symptoms, including recurrent infections, chronic inflammation, autoimmune disorders, and developmental delays. Genetic testing, including NGS, can help diagnose this condition and guide appropriate treatment. The cost of testing may vary, but it is a valuable investment in the health and well-being of individuals and their families.

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 IKBKB Gene Immunodeficiency type 15 NGS Genetic DNA Test