| 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, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis |
Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology |
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. |
