Aicardi-Goutieres syndrome
| Test Information | |
|---|---|
| Test Name | Aicardi-Goutieres syndrome |
| Lab (Location) | Newborn Screening Ontario |
| Category | Immunity |
| Subcategory | Primary immune deficiencies |
| Gene/Platform/Region List | ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Methodology Notes | Augmented exome backbone |
| Diseases/Conditions | Aicardi-Goutieres syndrome |