Genetic Test Details

GAMT deficiency

Test Information

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

Last Updated: June 23, 2025