FISH Analysis
| Test Information | |
|---|---|
| Test Name | FISH Analysis |
| Lab (Location) | Hamilton Health Sciences Centre |
| Category | Chromosomal Anomalies |
| Subcategory | FISH: 22q11.21 Deletion Syndrome |
| Gene/Platform/Region List | DiGeorge syndrome (22q11.2/TUPLE1) |
| Test type | Cytogenetic |
| Samples Accepted | Blood, Cultured Cells, Amniocyte, CVS, Fibroblasts |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | FISH |
| Methodology Notes | 22q11.2/TUPLE1 |
| Diseases/Conditions | 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. |