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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, 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: 04 juin 2026