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)