Test Code: PNL004

Genes: ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 (7 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1600

Description:
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.