Short Description

NGS genetic DNA test detecets for variant and mutation detection in RNASEH2B gene for Aicardi-Goutieres syndrome type 2

PreTest Information

Clinical History of Patient who is going for RNASEH2B Gene Aicardi-Goutieres syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RNASEH2B Gene Aicardi-Goutieres syndrome type 2

Detail Description

Understanding RNASEH2B Gene and Aicardi-Goutieres Syndrome Type 2

Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain, skin, and immune system. It is a type of autoimmune disorder that can cause severe neurological damage. AGS is a rare disease and it is estimated to affect approximately 1 in 100,000 individuals worldwide. AGS is caused by mutations in several genes, including the RNASEH2B gene. In this blog post, we will take a closer look at the RNASEH2B gene and its role in AGS type 2, the symptoms of AGS type 2, the diagnosis process, and the cost of NGS genetic DNA testing for AGS type 2 in India.

Understanding the RNASEH2B Gene and its Role in AGS Type 2

The RNASEH2B gene is responsible for producing an enzyme that is involved in DNA replication and repair. When this gene is mutated, it can cause problems with DNA repair, leading to the accumulation of damaged DNA in cells. This can trigger an immune response that can cause inflammation, which can damage brain tissue.

AGS type 2 is caused by mutations in the RNASEH2B gene. Individuals with AGS type 2 have a defective RNASEH2B enzyme, which leads to the accumulation of damaged DNA and inflammation in the brain. This can cause a range of symptoms, including seizures, developmental delays, and vision problems.

Symptoms of AGS Type 2

The symptoms of AGS type 2 can vary from person to person, but they often appear in the first year of life. Common symptoms include:

• Seizures
• Feeding difficulties
• Developmental delays
• Muscle stiffness
• Vision problems

As the disease progresses, individuals with AGS type 2 may experience more severe symptoms, including intellectual disability, spasticity, and blindness.

Diagnosis of AGS Type 2

Diagnosing AGS type 2 can be challenging, as the symptoms can be similar to other neurological disorders. However, there are several diagnostic tests that can be used to confirm a diagnosis of AGS type 2, including:

• Magnetic resonance imaging (MRI) to look for brain abnormalities
• Analysis of cerebrospinal fluid to look for signs of inflammation
• Genetic testing to identify mutations in the RNASEH2B gene

Cost of NGS Genetic DNA Testing for AGS Type 2 in India

The cost of NGS genetic DNA testing for AGS type 2 in India can vary depending on the laboratory and the specific tests performed. However, on average, the cost of NGS genetic DNA testing for AGS type 2 in India is around INR 20,000.

Conclusion

AGS type 2 is a rare genetic disorder that affects the brain, skin, and immune system. It is caused by mutations in the RNASEH2B gene, which is responsible for producing an enzyme involved in DNA replication and repair. The symptoms of AGS type 2 can vary from person to person, but they often appear in the first year of life. Diagnosing AGS type 2 can be challenging, but there are several diagnostic tests that can be used to confirm a diagnosis. The cost of NGS genetic DNA testing for AGS type 2 in India is around INR 20,000.

If you suspect that you or a loved one may have AGS type 2, it is important to speak with a healthcare professional. They can help you determine the best course of action and provide support throughout the diagnostic and treatment process.

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 RNASEH2B Gene Aicardi-Goutieres syndrome type 2 NGS Genetic DNA Test