Carnitine Uptake Deficiency

Test Information

Title
Carnitine Uptake Deficiency
Lab
Category
Metabolic
Test Name (CMS Title)
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
SLC22A5
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 transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP

Last Updated: November 14, 2025

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