Constitutional FISH panel: Smith-Magenis Syndrome
| Test Information | |
|---|---|
| Test Name | Constitutional FISH panel: Smith-Magenis Syndrome |
| Lab (Location) | Kingston General Hospital |
| Category | Chromosomal Anomalies |
| Subcategory | FISH: Smith-Magenis Syndrome |
| Gene/Platform/Region List | SHMT1/TOP3A/FLII/LLGL1 |
| 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 | Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome) |
| Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |