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Genetic Test Details

Guanidinoacetate Methyltransferase Deficiency

Test Information

Titre
Guanidinoacetate Methyltransferase Deficiency
Catégorie
Metabolic
Sub Category
Organic Acid Disorders
Gene/Platform/Region List

GAMT

Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes

Augmented exome backbone

Disease/Condition

GAMT deficiency

Dernière Mise à Jour: 04 juin 2026