Short Description

NGS genetic DNA test detecets for variant and mutation detection in SAMHD1 gene for Aicardi-Goutieres syndrome type 5

PreTest Information

Clinical History of Patient who is going for SAMHD1 Gene Aicardi-Goutieres syndrome type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SAMHD1 Gene Aicardi-Goutieres syndrome type 5

Detail Description

SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test

Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain and immune system. It is caused by mutations in several genes, including the SAMHD1 gene. AGS type 5 is specifically caused by mutations in the SAMHD1 gene.

The SAMHD1 gene provides instructions for making a protein that plays a role in regulating the immune system and protecting cells from viral infections. Mutations in this gene can lead to an overactive immune response, causing inflammation in the brain and other parts of the body. This can result in symptoms such as seizures, developmental delays, and movement disorders.

The SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test is a genetic test that can detect mutations in the SAMHD1 gene. This test uses Next Generation Sequencing (NGS) technology to analyze the DNA sequence of the gene and identify any mutations that may be present.

Symptoms of Aicardi-Goutieres Syndrome Type 5

The symptoms of AGS type 5 can vary widely, but typically appear in the first few months of life. Common symptoms include:

• Seizures
• Developmental delays
• Movement disorders
• Enlarged liver and spleen
• Anemia
• Inflammation of the brain and other organs

These symptoms can be caused by a variety of other conditions as well, so it is important to consult with a healthcare professional if you suspect your child may have AGS type 5.

Diagnosis of Aicardi-Goutieres Syndrome Type 5

Diagnosing AGS type 5 can be challenging, as the symptoms can be similar to other conditions. A healthcare professional may perform a variety of tests to rule out other conditions and confirm a diagnosis of AGS type 5.

The SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test can be a valuable tool in diagnosing this condition. By detecting mutations in the SAMHD1 gene, this test can help confirm a diagnosis of AGS type 5.

Cost of SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test

The cost of the SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test varies depending on the provider. At DNA Labs India, this test is available for INR 20,000.

This test can be a valuable investment in the health of your child, providing valuable information for diagnosis and treatment.

Conclusion

Aicardi-Goutieres Syndrome Type 5 is a rare genetic disorder that can have serious impacts on the health and development of affected individuals. The SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test can be a valuable tool in diagnosing this condition and providing information for treatment.

If you suspect your child may have AGS type 5 or are concerned about their health, consult with a healthcare professional and consider the SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test.

Investing in your child's health is always a wise decision, and DNA Labs India is here to provide high-quality genetic testing services at an affordable price.

Contact us today to learn more about the SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic DNA Test and other genetic testing options.

Remember, knowledge is power when it comes to your health!

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 SAMHD1 Gene Aicardi-Goutieres syndrome type 5 NGS Genetic DNA Test