| 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. |
