Genetic Test Details | Ontario Health

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: Blood, DNA
Indications: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing
Disease/Condition: carnitine transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP

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