PYRUVATE DEHYDROGENASE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 19 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Pyruvate Dehydrogenase Deficiency panel analyzes 19 genes involved in the pyruvate dehydrogenase (PDH) enzyme complex, responsible for converting pyruvate into acetyl-CoA, a key step for carbon entry into the Krebs cycle and mitochondrial energy production. Mutations in these genes cause impaired glucose utilization, with accumulation of lactate and pyruvate, leading to lactic acidosis, hypotonia, psychomotor developmental delay, seizures, and episodes of metabolic decompensation. Among the most relevant genes are PDHA1, the most frequently affected and X-linked; PDHB, DLAT, and DLD, which encode other subunits of the PDH complex; and PDHX and PDP1, involved in its regulation. Furthermore, genes such as BOLA3, NFU1, LIAS, and LIPT1 are related to the biogenesis of iron-sulfur clusters and mitochondrial lipoylation, processes essential for the activity of the complex. The study is being conducted using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs for a comprehensive evaluation of the primary and secondary genetic causes of this disorder. Genes included: BOLA3, DLAT, DLD, GLRX5, LIAS, LIPT1, MPC1, NADK2, NFU1, PC, PDHA1, PDHB, PDHX, PDK3, PDP1, SLC19A2, SLC19A3, SLC25A19, TPK1.
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