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
Diagnosis , 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: 18 juin 2025