MADD/Glutaric aciduria type 2
| Test Information | |
|---|---|
| Test Name | MADD/Glutaric aciduria type 2 |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Fatty Acid Oxidation Diseases |
| Gene/Platform/Region List | ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3 |
| 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 | Multiple acyl-CoA dehydrogenase deficiency (MADD), Glutaric acidemia type II |