Ataxia Telangiectasia /Nijmegen Breakage Syndrome
| Test Information | |
|---|---|
| Test Name | Ataxia Telangiectasia /Nijmegen Breakage Syndrome |
| Lab (Location) | The Hospital for Sick Children |
| Category | Neurogenetics |
| Subcategory | Ataxia Telangiectasia (Nijmegen Breakage Syndrome) |
| Gene/Platform/Region List | All chromosomes |
| Test type | Cytogenetic |
| Samples Accepted | Blood |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | Chromosome Breakage |
| Methodology Notes | 3 day PHA-stimulated culture; G-banding |
| Diseases/Conditions | Ataxia Telangiectasia, Nijmegen Breakage syndrome, Chromosome Breakage Test |
| Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |