FISH: Saethre-Chotzen
| Test Information | |
|---|---|
| Test Name | FISH: Saethre-Chotzen |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Chromosomal Anomalies |
| Subcategory | FISH: Saethre-Chotzen Syndrome |
| Gene/Platform/Region List | TWIST1, 7p21.2 |
| Test type | Cytogenetic |
| Samples Accepted | Blood, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | FISH |
| Methodology Notes | Metaphase FISH |
| Diseases/Conditions | Saethre-Chotzen (Saethre-Chotzen Syndrome, Acrocephalosyndactyly Type III (ACS3), Chotzen syndrome, Blepharophimosis,epicanthus inversus, and ptosis 3) |
| Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |