
9000
GTD Indications
Diagnosis
Prenatal
GTD Samples Accepted
Blood
GTD Test Methodology
CNV
GTD Methodology Notes
MLPA 29 Genes within the 22q11-13 region
Generic Test name (cms title)
22q11.21 Deletion Syndrome
GTD Test type
Gene Panel
GTD Location
The Hospital for Sick Children
GTD Gene/Platform/Region List
22q11.2
GTD Category
Neurodevelopmental
GTD Disease/Condition
DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome