Genetic Test Details | Ontario Health

Bloom Syndrome

Test Information

Title: Bloom Syndrome
Lab: The Hospital for Sick Children
Category: Hematology
Test Name (CMS Title): Bloom Syndrome
Gene/Platform/Region List: All chromosomes, BLM
Test type: Cytogenetic, Targeted Variant
Samples Accepted: Blood
Indications: Diagnosis
Test Methodology: Chromosome Breakage, Sequencing
Methodology Notes: 3 day culture with addition of Bromodeoxyuridine; Specialized staining for SCE; Sequencing of BLM
Disease/Condition: Bloom Syndrome, Sister Chromatid Exchange

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