FISH: Miller-Dieker syndrome
| Test Information | |
|---|---|
| Test Name | FISH: Miller-Dieker syndrome |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Chromosomal Anomalies |
| Subcategory | FISH: Miller-Dieker Syndrome |
| Gene/Platform/Region List | PAFAH1B1 (LIS1), 17p13.3 |
| Test type | Cytogenetic |
| Samples Accepted | Blood, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | FISH |
| Methodology Notes | Metaphase FISH |
| Diseases/Conditions | Miller-Dieker syndrome (Miller-Dieker syndrome, postaxial acrofacial dysostosis, POADS, Genee-Wiedemann syndrome) |
| Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |