Genetic Test Details | Ontario Health

Chronic Granulomatous Disease

Test Information

Title: Chronic Granulomatous Disease
Lab: Newborn Screening Ontario
Category: 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: Diagnosis, 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)

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