Pyruvate dehydrogenase complex deficiency
| Test Information | |
|---|---|
| Test Name | Pyruvate dehydrogenase complex deficiency |
| Lab (Location) | Newborn Screening Ontario |
| Category | Mitochondrial |
| Subcategory | Mitochondrial nuclear gene |
| Gene/Platform/Region List | BOLA3, DLAT, DLD, LIAS, LIPT1, LIPT2, NFU1, PC, PDHA1, PDHB, PDHX, PDK3, PDP1, SLC19A2, SLC19A3, TPK1 |
| 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 |
| Methodology Notes | Augmented exome backbone |
| Diseases/Conditions | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, PDH E2 Deficiency, DLD Deficiency, Hyperglycinemia-lactic acidosis-seizures, Lipoyltransferase Deficiency, Multiple Mitochondrial Dysfunctions Syndrome 1, Pyruvate Carboxylase, Pyruvate Dehydrogenase Deficiency, PDHE1-alpha, PDHE1-beta, PDH-X, CMT X-linked Type 6, PDH Phosphatase Deficiency, Thiamine-Responsive Megaloblastic Anemia, Thiamine Metabolism Dysfunction Syndrome 5 |