2005

GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood Cultured Cells Amniocyte CVS Fibroblasts GTD Test Methodology FISH GTD Methodology Notes 22q11.2/TUPLE1
GTD Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. Generic Test name (cms title) FISH: 22q11.21 Deletion Syndrome GTD Test type Cytogenetic GTD Location Hamilton Health Sciences Centre GTD Gene/Platform/Region List DiGeorge syndrome (22q11.2/TUPLE1)
GTD Category Chromosomal Anomalies GTD Disease/Condition 22q11.21 Deletion Syndrome (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)