Short Description

Ataxia-telangiectasia (AT) is an autosomal recessive disorder presenting in the first decade of life with progressive telangiectatic lesions associated with deficit in cerebellar function & nystagmus.There is a high incidence of pulmonary infections and neoplasms of lymphatic & reticuloendothelial system. Associated tumors usually seen are Lymphomas, Hodgkin disease, Acute T cell leukemia & Breast cancer. Mutations in ATM gene reduce or eliminate the function of the ATM protein which causes AT.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: ATAXIA-TELANGIECTASIA Test cost INR:23400 symptoms diagnosis

What is Ataxia-Telangiectasia?

Ataxia-Telangiectasia (A-T) is a rare, inherited neurodegenerative disorder that affects multiple organs and systems in the body. It is caused by mutations in the ATM gene, which is responsible for repairing damaged DNA. A-T is characterized by a progressive loss of muscle control (ataxia), immune system dysfunction, and an increased risk of cancer.

Symptoms of Ataxia-Telangiectasia

The symptoms of A-T usually appear in childhood, typically between the ages of 1 and 4 years. The most common symptoms of A-T include:

• Difficulty with coordination and balance (ataxia)
• Enlarged blood vessels on the surface of the skin (telangiectasia)
• Recurrent respiratory infections
• Delayed growth and development
• Increased risk of cancer, particularly lymphoma and leukemia
• Immune system dysfunction

Diagnosis of Ataxia-Telangiectasia

The diagnosis of A-T is based on a combination of clinical symptoms, family history, and laboratory testing. DNA sequencing of the ATM gene is required to confirm the diagnosis. Nx GEN SEQUENCING is a newer technology that can be used for genetic testing in A-T. This technology is more comprehensive and accurate than traditional genetic testing methods.

Nx GEN SEQUENCING: ATAXIA-TELANGIECTASIA Test cost INR:23400

DNA Labs India offers Nx GEN SEQUENCING testing for A-T at a cost of INR 23400. This test provides a comprehensive analysis of the ATM gene, allowing for more accurate diagnosis and identification of specific mutations that may be associated with A-T. The test can be performed on a blood or saliva sample and results are typically available within 2-3 weeks.

Conclusion

Ataxia-Telangiectasia is a rare, inherited disorder that can have serious health consequences. Early diagnosis is important for appropriate management and treatment. Nx GEN SEQUENCING is a newer technology that can provide more accurate and comprehensive genetic testing for A-T. DNA Labs India offers Nx GEN SEQUENCING for A-T at a cost of INR 23400.

If you suspect that you or a loved one may have A-T, it is important to speak with a healthcare provider and consider genetic testing.

Ataxia-telangiectasia (AT) is an autosomal recessive disorder presenting in the first decade of life with progressive telangiectatic lesions associated with deficit in cerebellar function & nystagmus.There is a high incidence of pulmonary infections and neoplasms of lymphatic & reticuloendothelial system. Associated tumors usually seen are Lymphomas, Hodgkin disease, Acute T cell leukemia & Breast cancer. Mutations in ATM gene reduce or eliminate the function of the ATM protein which causes AT.