Chronic Granulomatous Disease

Test Information

Titre
Chronic Granulomatous Disease
Catégorie
Immunity
Test Name (CMS Title)
Primary immune deficiencies
Gene/Platform/Region List
CYBA, CYBB, CYBC1, G6PD, NCF1, NCF2, NCF4
Test type
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Exome with option of Long-range PCR and Sanger for NCF1 with abnormal NOBI
Disease/Condition
Chronic Granulomatous Disease (CGD)

Dernière Mise à Jour: 09 décembre 2025