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GAMT deficiency

Test Information

Title
GAMT deficiency
Lab
Category
Metabolic
Test Name (CMS Title)
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
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Augmented exome backbone
Disease/Condition
GAMT deficiency

Last Updated: December 09, 2025

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