Genetic Test Details

Carnitine Uptake Deficiency

Test Information

Title
Carnitine Uptake Deficiency
Lab
Newborn Screening Ontario
Category
Metabolic
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
SLC22A5
Test type
Single Gene
Samples Accepted
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Disease/Condition
carnitine transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP

Last Updated: June 23, 2025

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