Short Description

Aicardi-Gouti??res syndrome (AGS) is an inherited encephalopathy that affects newborns resulting in severe intellectual and physical disability. It has an early onset form that is severe and a late onset form that has less impact on neurological function._x000D_ Diagnosis of AGS is established in a proband with typical clinical findings and characteristic abnormalities on cranial CT (calcification of the basal ganglia and white matter) and MRI (leukodystrophic changes) and/or by the identification of one of the following: Biallelic pathogenic variants in ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, or TREX1 genes or specific heterozygous autosomal dominant pathogenic variants in TREX1 and ADAR genes.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: AICARDI-GOUTIERES SYNDROME Test

Aicardi-Goutieres Syndrome (AGS) is a rare and progressive neurodevelopmental disorder that affects the brain and the immune system. It is caused by mutations in several genes, including the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 genes. AGS is characterized by inflammation in the brain and the spinal cord, which leads to a wide range of symptoms such as seizures, developmental delay, and intellectual disability.

Nx GEN SEQUENCING is a genetic test that can identify mutations in the genes associated with AGS. It uses advanced sequencing technology to analyze the DNA of a patient and detect any changes or variations in the genes. This test is highly accurate and can provide a definitive diagnosis of AGS.

Symptoms of Aicardi-Goutieres Syndrome

The symptoms of AGS can vary depending on the severity and the age of onset. The most common symptoms include:

• Seizures
• Developmental delay
• Intellectual disability
• Microcephaly (abnormally small head size)
• Spasticity (stiffness and involuntary muscle contractions)
• Retinal degeneration (loss of vision)
• Hepatitis (inflammation of the liver)

These symptoms usually appear within the first year of life, but in some cases, they may not be noticeable until later in childhood.

Diagnosis of Aicardi-Goutieres Syndrome

The diagnosis of AGS is based on a combination of clinical symptoms, imaging studies, and genetic testing. Nx GEN SEQUENCING is a highly accurate and reliable test that can identify mutations in the genes associated with AGS. The test involves taking a small sample of blood or saliva from the patient and analyzing the DNA for any changes or variations. The results of the test can provide a definitive diagnosis of AGS and help doctors to develop an appropriate treatment plan.

Test Cost

The cost of the Nx GEN SEQUENCING test for AGS in India is INR 23400. This may vary depending on the location and the laboratory where the test is performed. Some insurance plans may cover the cost of genetic testing, so it is important to check with the insurance provider before undergoing the test.

Conclusion

Aicardi-Goutieres Syndrome is a rare and progressive neurodevelopmental disorder that affects the brain and the immune system. Nx GEN SEQUENCING is a genetic test that can identify mutations in the genes associated with AGS. The test is highly accurate and can provide a definitive diagnosis of AGS, which can help doctors to develop an appropriate treatment plan. If you or someone you know is experiencing symptoms of AGS, it is important to speak with a healthcare provider and consider undergoing genetic testing.

For more information on genetic testing for AGS and other genetic disorders, contact DNA Labs India.