Aicardi-Goutieres Syndrome Gene Panel

The Aicardi-Goutières Syndrome (AGS) Gene Panel is a genetic test that analyses multiple genes known to be associated with Aicardi-Goutières syndrome (AGS), a rare inherited disorder that primarily affects the brain and immune system. AGS often presents in infancy or early childhood with symptoms that can resemble congenital viral infections. By identifying disease-causing genetic variants, this test helps confirm the diagnosis, supports clinical management, and provides valuable information for genetic counselling and family planning.

 Who Should Get This Test Done?

This test is recommended for:

●     Infants or children with developmental delay, regression, or unexplained neurological symptoms.

●     Individuals with clinical features suggestive of Aicardi-Goutières syndrome.

●     Individuals with unexplained brain abnormalities, seizures, or movement disorders where a genetic cause is suspected.

●     Children with persistent inflammation or immune system abnormalities without a clear cause.

●     Individuals with a family history of Aicardi-Goutières syndrome or related inherited disorders.

Why Consider This Test?

This test:

●     Helps confirm the diagnosis of Aicardi-Goutières syndrome by identifying disease-causing genetic variants.

●     Differentiates AGS from other neurological or inflammatory conditions with similar symptoms.

●     Supports early diagnosis and appropriate clinical management.

●     Provides important information for genetic counselling and assessing recurrence risk within families.

●     Assists healthcare providers in planning further evaluation and long-term follow-up.

More Information

The Aicardi-Goutières Syndrome Gene Panel uses advanced molecular genetic techniques, such as next-generation sequencing (NGS), to analyse genes associated with AGS. Mutations in these genes can lead to abnormal activation of the immune system and inflammation, resulting in neurological damage. The test is typically recommended as part of a comprehensive evaluation and is interpreted alongside the patient’s clinical history, neurological examination, brain imaging, and other laboratory findings.

 Other Names

●     Aicardi-Goutières Syndrome (AGS) Gene Panel

●     AGS Genetic Panel

●     Aicardi-Goutières Syndrome Molecular Panel

●     AGS Mutation Analysis

●     Aicardi-Goutières Syndrome Genetic Test