Constitutional FISH panel: 22q11.21 Deletion Syndrome
| Test Information | |
|---|---|
| Test Name | Constitutional FISH panel: 22q11.21 Deletion Syndrome |
| Lab (Location) | Kingston General Hospital |
| Category | Chromosomal Anomalies |
| Subcategory | FISH: 22q11.21 Deletion Syndrome |
| Gene/Platform/Region List | HIRA (TUPLE1) |
| Test type | Cytogenetic |
| Samples Accepted | Blood, Cultured Cells, Amniocyte, CVS, Products of Conception, Skin Punch |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | FISH |
| Methodology Notes | Constitutional FISH |
| 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. |