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CPT1 deficiency

Test Information

Title
CPT1 deficiency
Lab
Category
Metabolic
Test Name (CMS Title)
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
CPT1A
Test type
Single Gene
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Carnitine palmitoyltransferase I deficiency

Last Updated: December 09, 2025

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