CONGENITAL DEFECT OF BILE ACID SYNTHESIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Congenital Bile Acid Synthesis Defect panel analyzes five genes involved in the biosynthesis and metabolism of bile acids, compounds essential for fat digestion and cholesterol regulation. Alterations in these genes result in abnormal synthesis of primary bile acids, accumulation of toxic intermediates, and progressive liver failure. Among the genes studied are HSD3B7 and AKR1D1, involved in the initial steps of the synthesis pathway; CYP7B1, which catalyzes sterol hydroxylation; AMACR, necessary for peroxisomal β-oxidation; and ABCD3, which transports bile acids to peroxisomes. Clinically, these defects can manifest as neonatal cholestasis, jaundice, hepatomegaly, fatty diarrhea, and fat-soluble vitamin deficiencies. This panel uses next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs to identify relevant mutations. Genes included: ABCD3, AKR1D1, AMACR, CYP7B1 and HSD3B7.
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