Nx Gene Sequencing : Ataxia Telangiectasia

Ataxia-telangiectasia is a very infrequent disorder that is hereditary in the nature which has an effect on the human nervous system and functioning of the immune system. This disorder starts showing indicators in the early childhood, generally before the patient reaches the age of 5.

Children with this disease develop a problem in their limbs which makes it difficult for them to have motor skills and they find it difficult to have balance.   Affected patients generally have high amounts of a protein known as AFP in their blood. People with Ataxia-telangiectasia are prone to develop long term lung infections and they also possess to have a high risk of blood cancers because this illness makes their immune system weaker.

Nx gene sequencing has revolutionised the medical field as it permits the labs to carry out a wide variety of applications and study the biological systems at a level that was not possible previously. At present time complicated genomic questions urges to have a deep knowledge beyond the capacity of conventional DNA sequencing technologies.

Cause

It is caused by a genetic mutation that can be inherited by anyone if their parents both have a copy of ATM gene mutation

When to get tested for this test

If you are having following symptoms

• Not being able to walk properly
• Difficulty in completing motor tasks such as eating and writing.
• Not being able to balance
• Difficulty in swallowing food
• Difficulty in motor skills development.

Documents required

>>Doctor’s prescription
>>A valid identity proof
>>It is mandatory to fill whole exome sequencing consent form for this test.

Cost of Nx gene sequencing: Ataxia Telangiectasia

The cost of Nx gene sequencing: amyotrophic Ataxia-telangiectasia test varies from INR 25000 to INR 28000.

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