Carnitine Uptake Deficiency
| Test Information | |
|---|---|
| Test Name | Carnitine Uptake Deficiency |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | 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 | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | carnitine transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP |