ABETALIPOPROTEINEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes

The Abetalipoproteinemia panel analyzes two key genes associated with this rare inherited metabolic disorder of lipid metabolism, characterized by the absence or marked reduction of lipoproteins containing apolipoprotein B. This alteration leads to intestinal malabsorption of fats and fat-soluble vitamins, acanthocytosis, steatorrhea, failure to thrive, and progressive neurological and ophthalmological complications due to vitamin A and E deficiencies. Mutations in MTTP (microsomal triglyceride transfer protein gene) and APOB (apolipoprotein B gene) prevent the correct assembly and secretion of chylomicrons and very low-density lipoproteins (VLDL). Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the precise identification of the causative variants responsible for the defect in lipid transport and lipoprotein metabolism. Some of the genes included in this panel are MTTP and APOB. You can consult the complete list of genes by contacting Genotica.