Genetic Test Details

Urea Cycle Diseases: All

Test Information

Titre
Urea Cycle Diseases: All
Catégorie
Metabolic
Sub Category
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
Gene Panel
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing

Dernière Mise à Jour: 05 septembre 2025