FISH: Phelan-McDermid syndrome
| Test Information | |
|---|---|
| Test Name | FISH: Phelan-McDermid syndrome |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Chromosomal Anomalies |
| Subcategory | FISH: Phelan-McDermid Syndrome |
| Gene/Platform/Region List | SHANK3, 22q13.33 |
| Test type | Cytogenetic |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | FISH |
| Diseases/Conditions | Phelan-McDermid syndrome (Phelan-McDermid syndrome, 22q13.3 Deletion Syndrome, Chromosome 22q13.3 Deletion Syndrome, Deletion 22q13 Syndrome) |
| Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |