b-ketothiolase deficiency
| Test Information | |
|---|---|
| Test Name | b-ketothiolase deficiency |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Organic Acid Disorders |
| Gene/Platform/Region List | ACAT1 |
| 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 | Ketothiolase deficiency, Beta-keta thiolase deficiency |