Genetic Test Details | Ontario Health

Urea Cycle Diseases: All

Test Information

Title: Urea Cycle Diseases: All
Lab: Newborn Screening Ontario
Category: Metabolic
Test Name (CMS Title): Urea Cycle Disorders
Gene/Platform/Region List: ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A, CPS1, DBT, DLD, GLUD1, GLUL, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7
Test type
Samples Accepted: Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing

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