Multiple Carboxylase Deficiency
| Test Information | |
|---|---|
| Test Name | Multiple Carboxylase Deficiency |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Organic Acid Disorders |
| Gene/Platform/Region List | CA5A, HLCS, BTD |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | Carbonic Anhydrase Deficiency, Holocarboxylase Synthetase Deficiency, Biotinidase Deficiency |