Constitutional FISH: 22q11.21 Deletion Syndrome

Test Information
Test Name Constitutional FISH: 22q11.21 Deletion Syndrome
Lab (Location) London Health Sciences Centre
Category Chromosomal Anomalies
Subcategory FISH: 22q11.21 Deletion Syndrome
Gene/Platform/Region List HIRA
Test type Cytogenetic
Samples Accepted Blood
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology FISH
Methodology Notes Constitutional FISH
Diseases/Conditions DiGeorge (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))
Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.