Genetic Test Details
Pyruvate dehydrogenase complex deficiency
Test Information
- Titre
-
Pyruvate dehydrogenase complex deficiency
- Catégorie
- Mitochondrial
- Sub Category
-
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
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Methodology Notes
-
Augmented exome backbone
- Disease/Condition
-
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
Dernière Mise à Jour: 05 septembre 2025