MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE): CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) panel analyzes four genes associated with a multisystem mitochondrial disease characterized by severe gastroenteropathy (intestinal pseudo-obstruction, chronic diarrhea, weight loss), progressive external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy. The primary alteration is a defect in mitochondrial nucleotide metabolism, leading to dysfunction in mitochondrial DNA replication and cellular energy failure. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies pathogenic mutations in key genes involved in mitochondrial DNA replication, repair, and maintenance, such as TYMP, POLG, RRM2B, and LIG3, which are responsible for the majority of reported cases.
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