Constitutional FISH panel: Williams Syndrome
| Test Information | |
|---|---|
| Test Name | Constitutional FISH panel: Williams Syndrome |
| Lab (Location) | Kingston General Hospital |
| Category | Chromosomal Anomalies |
| Subcategory | FISH: Williams Syndrome |
| Gene/Platform/Region List | ELN |
| 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 | Williams syndrome (Williams syndrome (WS), Williams-Beuren Syndrome (WBS), idiopathic infantile hypercalcemia (IHC), supravalvular aortic stenosis syndrome (SASS), Williams elfin facies syndrome, Beuren Syndrome, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Early Hypercalcemia Syndrome with Elfin Facies) |
| Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |