SITOSTEROLEMIA / PHYTOSTEROLEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Sitosterolemia or Phytosterolemia panel analyzes the ABCG5 and ABCG8 genes, which are responsible for a rare inherited metabolic disorder characterized by the abnormal accumulation of plant sterols (phytosterols) in the blood and tissues. This alteration is due to defects in the intestinal and biliary transport of sterols, leading to hypercholesterolemia, xanthomas, hemolytic anemia, hepatomegaly, and an increased risk of premature cardiovascular disease. Sequencing these genes allows for the detection of pathogenic variants that affect the proper functioning of the ABCG5/8 transporter, which is essential for the excretion of non-cholesterol sterols.
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