Homocystinuria: Hypermethioninemia

Test Information

Titre
Homocystinuria: Hypermethioninemia
Lab
Catégorie
Metabolic
Test Name (CMS Title)
Amino Acid Disorders
Gene/Platform/Region List
ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Hypermethioninemia, homocystinuria

Dernière Mise à Jour: 09 décembre 2025