Genetic Test Details

Bloom Syndrome

Test Information

Titre
Bloom Syndrome
Catégorie
Hematology
Sub Category
Bloom Syndrome
Gene/Platform/Region List

All chromosomes, BLM

Test type
Cytogenetic, Targeted Variant
Samples Accepted
Blood
Indications
Diagnostics, Prenatal
Test Methodology
Sequencing, Chromosome Breakage
Methodology Notes

3 day culture with addition of Bromodeoxyuridine; Specialized staining for SCE; Sequencing of BLM

Disease/Condition

Bloom Syndrome, Sister Chromatid Exchange

Dernière Mise à Jour: 05 septembre 2025