
9006
GTD Indications
Diagnosis
Prenatal
GTD Samples Accepted
Blood
DNA
DNA (Not Accepted for MLPA)
GTD Test Methodology
CNV
Sequencing
GTD Methodology Notes
Exome + targeted microarray
GTD Notes
DNA not accepted for MLPA
Generic Test name (cms title)
Aicardi-Goutieres Syndrome
GTD Test type
Gene Panel
GTD Location
The Hospital for Sick Children
GTD Gene/Platform/Region List
ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
GTD Category
Immunity
GTD Disease/Condition
Aicardi-Goutieres syndrome