GTD Indications
Diagnosis
Carrier / Cascade Testing
Prenatal
GTD Samples Accepted
Blood
Amniocyte
CVS
GTD Test Methodology
FISH
GTD Methodology Notes
Metaphase FISH
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)
22q11.21 Deletion Syndrome
GTD Test type
Cytogenetic
GTD Location
Children's Hospital of Eastern Ontario
GTD Gene/Platform/Region List
HIRA (TUPLE1), 22q11.21
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)