PROPIONIC ACIDEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
The Propionic Acidemia Panel studies the PCCA and PCCB genes, which encode the α and β subunits of propionyl-CoA carboxylase, a key mitochondrial enzyme in the metabolism of amino acids (valine, isoleucine, methionine, and threonine), odd-chain fatty acids, and cholesterol. Deficiency of these genes causes the accumulation of propionic acid and toxic metabolites, leading to severe metabolic acidosis, hypotonia, vomiting, lethargy, encephalopathy, and developmental delay. This panel allows for the identification of pathogenic variants through next-generation sequencing (NGS) with analysis of SNVs, indels, and CNVs, optimizing the diagnosis of this autosomal recessive organic acidemia. Genes included: PCCA and PCCB.
Delivery time
3-4 weeks
Sample
Blood
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