| Test Information |
| Test Name |
Bloom Syndrome |
| Lab (Location) |
The Hospital for Sick Children |
| Category |
Hematology |
| Subcategory |
Bloom Syndrome |
| Gene/Platform/Region List |
All chromosomes, BLM |
| Test type |
Cytogenetic, Targeted Variant |
| Samples Accepted |
Blood |
| Indications Diagnosis |
Diagnosis, Prenatal |
| Test Methodology |
Chromosome Breakage, Sequencing |
| Methodology Notes |
3 day culture with addition of Bromodeoxyuridine; Specialized staining for SCE; Sequencing of BLM |
| Diseases/Conditions |
Bloom Syndrome, Sister Chromatid Exchange |
| Notes |
Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |
