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Bloom Syndrome

Test Information

Title
Bloom Syndrome
Lab
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

Last Updated: December 09, 2025

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