Genetic Test Details | Ontario Health

GAMT deficiency

Test Information

Title: GAMT deficiency
Lab: Newborn Screening Ontario
Category: 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: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing
Methodology Notes: Augmented exome backbone
Disease/Condition: GAMT deficiency

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