BILIARY CIRRHOSIS / LIVER FIBROSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 93 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Biliary Cirrhosis and Hepatic Fibrosis Panel analyzes 93 genes involved in chronic cholestasis, cholangiopathies, congenital fibrosis, and progressive liver diseases. Through next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it allows the study of genes related to bile acid transport, hepatic organogenesis, and hepatic ciliopathies, as well as metabolic defects and multisystem syndromes. This panel helps identify the genetic cause, establish the prognosis, guide treatment, and assess the risk of progression to liver failure or the need for transplantation. Genes included: ABCB11, ABCB4, ATP8B1, JAG1, NOTCH2, PKHD1, DCDC2, CLDN1, MYO5B, LIPA, NPC1, NPC2, FAH, and others. For a complete list of the genes studied, please contact Genotica.
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