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RNASEH2A Gene Aicardi-Goutieres syndrome type 4 Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The RNASEH2A gene is associated with Aicardi-Goutieres syndrome type 4 (AGS4), a rare genetic disorder that typically presents in infancy with severe neurological symptoms, including developmental delay, spasticity, and encephalopathy. AGS mimics congenital viral infections and is characterized by an overactive immune response in the brain. The RNASEH2A gene plays a crucial role in DNA repair and the maintenance of genome stability. Mutations in this gene disrupt these processes, leading to the accumulation of DNA fragments in the cell, triggering an abnormal immune response.

A genetic test for the RNASEH2A gene can confirm a diagnosis of Aicardi-Goutieres syndrome type 4. This test is particularly useful for families with a history of the condition or when a child presents with symptoms suggestive of AGS4. The test involves analyzing the patient’s DNA, extracted from a blood sample, for mutations in the RNASEH2A gene that are known to cause the disorder.

In the UAE, this specific genetic test is available at DNA Labs UAE, a leading provider of genetic testing and analysis services. The cost of the RNASEH2A gene test for Aicardi-Goutieres syndrome type 4 is 4400 AED. This comprehensive test not only aids in the diagnosis of AGS4 but also helps in the management and treatment planning for affected individuals. It can also provide valuable information for family planning to at-risk couples.

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RNASEH2A Gene Aicardi-Goutieres syndrome type 4 Genetic Test

Genetic testing plays a crucial role in the diagnosis and management of various genetic disorders. One such disorder is Aicardi-Goutieres syndrome type 4, which affects the brain and immune system. The RNASEH2A gene is associated with this rare genetic disorder.

Test Details

The RNASEH2A Gene Aicardi-Goutieres syndrome type 4 Genetic Test is a neurology-based test that utilizes Next-Generation Sequencing (NGS) technology. It aims to identify mutations in the RNASEH2A gene, which are responsible for causing Aicardi-Goutieres syndrome type 4.

Aicardi-Goutieres syndrome type 4 is characterized by early onset encephalopathy, developmental delay, and other neurological symptoms. By identifying these mutations, the test can aid in the diagnosis of affected individuals and their family members.

Components and Price

The cost of the RNASEH2A Gene Aicardi-Goutieres syndrome type 4 Genetic Test is AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery and Test Department

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test is conducted in the Genetics department of the laboratory.

Pre Test Information

Prior to undergoing the RNASEH2A Gene Aicardi-Goutieres syndrome type 4 Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by Aicardi-Goutieres syndrome type 4.

Role of the Neurologist

A neurologist plays a vital role in ordering and interpreting the results of the RNASEH2A Gene Aicardi-Goutieres syndrome type 4 Genetic Test. They are responsible for diagnosing and managing neurological disorders.

Importance of the Test

The RNASEH2A Gene Aicardi-Goutieres syndrome type 4 Genetic Test is crucial in providing an accurate diagnosis for individuals affected by Aicardi-Goutieres syndrome type 4. It also enables genetic counseling for both affected individuals and their family members. Additionally, the test results guide treatment and management decisions.

Test Name RNASEH2A Gene Aicardi-Goutieres syndrome type 4 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for RNASEH2A Gene Aicardi-Goutieres syndrome type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RNASEH2A Gene Aicardi-Goutieres syndrome type 4
Test Details

The RNASEH2A gene is associated with Aicardi-Goutieres syndrome type 4, a rare genetic disorder that affects the brain and immune system. The syndrome is characterized by early onset encephalopathy, developmental delay, and other neurological symptoms. NGS genetic testing can identify mutations in the RNASEH2A gene that cause Aicardi-Goutieres syndrome type 4. This information can be used to diagnose the syndrome in affected individuals and their family members, provide genetic counseling, and guide treatment and management decisions.