Short Description

NGS genetic DNA test detecets for variant and mutation detection in RNASEH2C gene for Aicardi-Goutieres syndrome type 3

PreTest Information

Clinical History of Patient who is going for RNASEH2C Gene Aicardi-Goutieres syndrome type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RNASEH2C Gene Aicardi-Goutieres syndrome type 3

Detail Description

Understanding RNASEH2C Gene and Aicardi-Goutieres Syndrome Type 3

Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain, immune system, and skin. It is caused by mutations in genes that play a role in the body's defense against viruses. One such gene is RNASEH2C, which plays a crucial role in DNA replication and repair.

Aicardi-Goutieres Syndrome type 3 (AGS3) is a subtype of AGS that is caused by mutations in the RNASEH2C gene. This condition is characterized by inflammation in the brain and skin, developmental delay, seizures, and other neurological symptoms.

Symptoms of Aicardi-Goutieres Syndrome type 3

The symptoms of AGS3 can vary from person to person, but some common signs include:

• Developmental delay
• Seizures
• Muscle stiffness and weakness
• Involuntary muscle movements
• Enlarged liver and spleen
• Skin rash

These symptoms typically appear within the first year of life, although some children may not show signs until later.

Diagnosing Aicardi-Goutieres Syndrome type 3

Diagnosing AGS3 can be challenging, as the symptoms can be similar to other neurological conditions. Genetic testing is often used to confirm a diagnosis of AGS3. This typically involves a Next-Generation Sequencing (NGS) test, which looks for mutations in the RNASEH2C gene.

It is important to note that genetic testing may not always provide a definitive diagnosis, as some individuals with AGS3 may not have mutations in the RNASEH2C gene. In these cases, additional testing may be necessary.

Cost of NGS Genetic DNA Test for AGS3

The cost of a NGS Genetic DNA Test for AGS3 can vary depending on the testing provider and location. In India, the cost for this type of test is typically around INR 20,000.

Conclusion

Aicardi-Goutieres Syndrome type 3 is a rare genetic disorder that can cause a range of neurological and physical symptoms. Genetic testing, such as a NGS Genetic DNA Test, can help confirm a diagnosis of AGS3 and provide valuable information for treatment and management of the condition.

It is important for individuals who suspect they may have AGS3 to speak with a healthcare provider and undergo testing if necessary.

For more information on genetic testing and AGS3, contact DNA Labs India.

Stay informed, stay healthy!

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 RNASEH2C Gene Aicardi-Goutieres syndrome type 3 NGS Genetic DNA Test