
Constitutional FISH: 22q11.21 Deletion Syndrome
Test Information | |
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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. |