MOLYBDENUM COFACTOR DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Molybdenum Cofactor Deficiency panel analyzes the MOCS1, MOCS2, and GPHN genes, which are responsible for the synthesis and assembly of molybdenum cofactor, a molecule essential for the activity of several enzymes involved in sulfur and nitrogen metabolism, such as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Mutations in these genes lead to a toxic accumulation of sulfite and other metabolites, causing severe neonatal encephalopathy, hypotonia, intractable seizures, developmental delay, and structural brain abnormalities. Type A (mutations in MOCS1) and type B (mutations in MOCS2 or GPHN) are distinguished by the point in the biosynthetic cycle affected. This panel allows for the detection of pathogenic variants by next-generation sequencing (NGS), including SNVs, indels, and CNVs, facilitating differential diagnosis with other neonatal metabolic encephalopathies. Genes included: GPHN, MOCS1, MOCS2.
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