GLYCINE ENCEPHALOPATHY / NONKETOTIC HYPERGLYINEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 13 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Glycine Encephalopathy or Nonketotic Hyperglycinemia panel analyzes 13 genes involved in a group of congenital metabolic disorders characterized by glycine accumulation in the central nervous system, leading to neonatal encephalopathy, hypotonia, seizures, apnea, and neurodevelopmental abnormalities. In attenuated forms, it can manifest as cognitive impairment, muscle rigidity, or refractory epilepsy. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of mutations in genes of the glycine degradation system and the biogenesis of iron-sulfur clusters, which are essential for mitochondrial metabolism. Among the most relevant genes are GLDC, AMT, GCSH, DLD, BOLA3, IBA57, LIAS, and NFU1, among others. This panel allows for diagnostic confirmation, prognosis, and guidance of therapeutic intervention and genetic counseling.
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