FAMILIAR CHYLOMICRONEMIA SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Familial Chylomicronemia Syndrome panel analyzes six genes associated with inherited disorders of triglyceride metabolism, characterized by extremely high levels of chylomicrons in plasma due to impaired triglyceride hydrolysis or transport. This rare disease can manifest with recurrent pancreatitis, abdominal pain, hepatosplenomegaly, skin rashes (eruptive xanthomas), and lipemia retinalis. The genes studied encode key proteins in the triglyceride degradation pathway mediated by lipoprotein lipase (LPL) and its cofactors. Among the most relevant are LPL (lipoprotein lipase), APOA5 (apolipoprotein A5), APOC2 (an essential LPL cofactor), GPIHBP1 (LPL transport to the endothelium), and LMF1 (LPL maturation). Next-generation sequencing (NGS) analysis with detection of SNVs, indels, and CNVs allows the identification of the variants responsible for this monogenic dyslipidemia.
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