METHYLMALONIC ACIDEMIA AND HOMOCYSTRINURIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 30 genes

The Methylmalonic Acidemia and Homocystinuria panel analyzes 30 genes associated with congenital defects in vitamin B12, methionine, and propionate metabolism, which are responsible for the accumulation of methylmalonic acid and homocysteine. These disorders are characterized by developmental delay, failure to thrive, hypotonia, recurrent metabolic acidosis, and neurological and vascular complications. The study includes genes involved in the synthesis, transport, and utilization of cobalamin, as well as in remethylation and transsulfuration pathways, encompassing both isolated forms of methylmalonic acidemia (MUT, MMAA, MMAB, MMACHC) and forms combined with homocystinuria (MMADHC, MTR, MTRR, MTHFR, CBS). Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the precise identification of causative variants. Some of the genes included in this panel are: MUT, MMACHC, MMADHC, MTR, MTRR, MTHFR, and CBS, among others. You can consult the complete list of genes by contacting Genotica.