HEREDITARY CHOLESTASIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 141 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Cholestasis Panel studies 141 genes involved in familial and progressive cholestasis, both neonatal and adult. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it analyzes canalicular transporters, genes involved in bile acid synthesis and recycling, ciliogenesis, and hepatic metabolism. This panel allows differentiation between treatable forms of cholestasis and those that progress to cirrhosis or liver failure, guiding follow-up and family genetic counseling. Genes included: ABCB11, ABCB4, ATP8B1, TJP2, NR1H4, SERPINA1, SLC10A1, UGT1A1, JAG1, NOTCH2, POLG, MPV17, PEX genes, and others. For a complete list of the genes studied, please contact Genotica.
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