Short Description

NGS genetic DNA test detecets for variant and mutation detection in RNASEH2A gene for Aicardi-Goutieres syndrome type 4

PreTest 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

Detail Description

Understanding the RNASEH2A Gene and Aicardi-Goutieres Syndrome Type 4

Aicardi-Goutieres Syndrome (AGS) is a rare genetic condition that affects the brain and immune system. It is caused by mutations in a number of genes, including the RNASEH2A gene. RNASEH2A is responsible for producing an enzyme that helps to remove DNA fragments that can accumulate in cells and cause damage. When mutations occur in this gene, it can lead to an accumulation of DNA fragments and trigger an immune response that damages the brain.

Symptoms of Aicardi-Goutieres Syndrome Type 4

AGS type 4 is caused by mutations in the RNASEH2A gene. The symptoms of AGS type 4 can vary widely between individuals, but may include:

• Seizures
• Developmental delay
• Enlarged spleen and liver
• Abnormal brain MRI scans
• Low white blood cell count

The symptoms of AGS type 4 typically appear within the first year of life, and may be mistaken for other conditions such as cerebral palsy or severe viral infections.

Diagnosis of Aicardi-Goutieres Syndrome Type 4

Diagnosis of AGS type 4 is typically made through a combination of clinical examination, brain imaging studies, and genetic testing. Genetic testing can identify mutations in the RNASEH2A gene that are associated with AGS type 4.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for AGS type 4 can vary depending on the specific test and laboratory used. At DNA Labs India, the cost of NGS Genetic DNA testing for AGS type 4 is INR 20,000.

Conclusion

Aicardi-Goutieres Syndrome type 4 is a rare genetic condition caused by mutations in the RNASEH2A gene. Symptoms can vary widely between individuals, but may include seizures, developmental delay, and abnormal brain MRI scans. Diagnosis is typically made through a combination of clinical examination, brain imaging studies, and genetic testing. At DNA Labs India, we offer NGS Genetic DNA testing for AGS type 4 at a cost of INR 20,000.

If you are concerned about the possibility of AGS type 4 in your family, we encourage you to speak with a genetic counselor or medical professional for more information.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services to our clients. Contact us today to learn more about our services and how we can assist you.

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 RNASEH2A Gene Aicardi-Goutieres syndrome type 4 NGS Genetic DNA Test