Genetic Test Details | Ontario Health

Aicardi-Goutieres syndrome

Test Information

Title: Aicardi-Goutieres syndrome
Lab: Newborn Screening Ontario
Category: Immunity
Test Name (CMS Title): Primary immune deficiencies
Gene/Platform/Region List: ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
Test type
Samples Accepted: Blood, DNA
Indications: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing
Methodology Notes: Augmented exome backbone
Disease/Condition: Aicardi-Goutieres syndrome

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