Test Code: PNL004
Aicardi-Giutieres Syndrome (7 Genes)
Neurogenetics
AGS is a rare genetic interferonopathy that presents in infancy with neurological regression, skin lesions, and systemic inflammation. Diagnosis relies on neuroimaging, interferon assays, and genetic testing, while management remains supportive with emerging immunomodulatory therapies under study.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
7 genes
ADAR
IFIH1
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
TREX1
Methodology
Capture-based target enrichment and Next Generation Sequencing
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