MADD/Glutaric aciduria type 2

Test Information

Title
MADD/Glutaric aciduria type 2
Lab
Category
Metabolic
Test Name (CMS Title)
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Multiple acyl-CoA dehydrogenase deficiency (MADD), Glutaric acidemia type II

Last Updated: November 14, 2025

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