Genetic Test Details

GAMT deficiency

Test Information

Titre
GAMT deficiency
Catégorie
Metabolic
Sub Category
Organic Acid Disorders
Gene/Platform/Region List
GAMT
Test type
Single Gene
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone
Disease/Condition
GAMT deficiency

Dernière Mise à Jour: 05 septembre 2025