PROGRESSIVE FAMILIAL/NEONATAL INTRAHEPATIC CHOLESTASIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Progressive and Neonatal Familial Intrahepatic Cholestasis Panel analyzes nine genes associated with early-onset cholestasis, jaundice, pruritus, and progression to liver failure. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it evaluates genes involved in bile acid transport, canalicular membrane integrity, and the regulation of hepatocellular function. Its use allows for the differentiation of genetic subtypes, optimization of treatment, and the establishment of prognosis and risk of familial recurrence. Genes included: ABCB11, ABCB4, ATP8B1, MYO5B, NR1H4, SEMA7A, SLC25A13, TJP2, USP53.
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