Genetic Test Details

Urea Cycle Diseases: Low citrulline

Test Information

Titre
Urea Cycle Diseases: Low citrulline
Catégorie
Metabolic
Sub Category
Urea Cycle Disorders
Gene/Platform/Region List
CPS1, NAGS, OTC
Test type
Gene Panel
Samples Accepted
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Disease/Condition
Citrullinemia type I, Classic citrullinemia Argininosuccinate synthetase deficiency, CTNL1, Citrullinuria, ASS deficiency, Citrullinemia 1

Dernière Mise à Jour: 18 juin 2025