Short Description

NGS genetic DNA test detecets for variant and mutation detection in AIRE gene for Autoimmune polyendocrinopathy syndrome type 1

PreTest Information

Clinical History of Patient who is going for AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic DNA Test gene AIRE

Detail Description

AIRE Gene Autoimmune Polyendocrinopathy Syndrome Type 1 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Autoimmune polyendocrinopathy syndrome type 1 (APS-1) is a rare genetic disorder that affects multiple endocrine glands and other organs. It is caused by mutations in the AIRE gene, which plays a crucial role in the normal functioning of the immune system. APS-1 can be diagnosed through a genetic DNA test that analyzes the AIRE gene using next-generation sequencing (NGS) technology. DNA Labs India offers this test at a cost of INR 20,000.

Symptoms of APS-1

The symptoms of APS-1 typically appear in childhood and adolescence and may include:

• Chronic mucocutaneous candidiasis (fungal infections of the skin and mucous membranes)
• Adrenal insufficiency (low levels of cortisol, a hormone produced by the adrenal glands)
• Hypoparathyroidism (low levels of parathyroid hormone, which regulates calcium and phosphorus levels in the body)
• Chronic hepatitis (inflammation of the liver)
• Autoimmune thyroiditis (inflammation of the thyroid gland)
• Diabetes mellitus type 1 (insulin-dependent diabetes)

Diagnosis of APS-1

APS-1 can be diagnosed through a combination of clinical evaluation and genetic testing. A doctor may suspect APS-1 based on a patient's symptoms and medical history. Genetic testing can confirm the diagnosis by identifying mutations in the AIRE gene.

NGS Genetic DNA Test for APS-1

The NGS genetic DNA test for APS-1 offered by DNA Labs India analyzes the entire coding region of the AIRE gene, including intron-exon boundaries, using state-of-the-art sequencing technology. The test is performed on a blood sample and can detect over 99% of all known mutations in the AIRE gene.

The test report includes a comprehensive analysis of the AIRE gene, including the identification of any mutations that may be responsible for the patient's symptoms. The report also includes a detailed interpretation of the results and recommendations for further testing or medical management.

Cost of the Test

The cost of the NGS genetic DNA test for APS-1 at DNA Labs India is INR 20,000. This includes the cost of the test, sample collection, and analysis, as well as the test report and interpretation.

Conclusion

APS-1 is a rare genetic disorder that can cause multiple endocrine and other organ dysfunction. Genetic testing using NGS technology can help diagnose the disorder and guide medical management. DNA Labs India offers the NGS genetic DNA test for APS-1 at a cost of INR 20,000. If you suspect that you or a loved one may have APS-1, talk to your doctor about genetic testing.