ABCB11 Comprehensive - Sequence & Deletion/Duplication Analysis

Clinical Use

Use

The ABCB11 Comprehensive - Sequence & Deletion/Duplication Analysis is designed to identify pathogenic variants associated with progressive familial intrahepatic cholestasis type 2 (PFIC2). PFIC2 is a genetic disorder resulting in reduced transport of bile salts from the liver, leading to impaired bile acid secretion and progressive liver disease. Symptoms often manifest as early onset cholestasis, which can progress to more severe conditions such as hepatic fibrosis, cirrhosis, and end-stage liver disease. Furthermore, affected individuals have an increased risk of developing hepatocellular carcinoma. Detection of null variants in the ABCB11 gene indicates a severe form of liver disease occurring at a younger age.

Special Instructions

Specimen collection should follow the outlined guidelines for optimal results. It is essential to maintain the integrity of samples during shipping, which should occur at room temperature overnight, without freezing or heating. For skin biopsies, specific collection techniques should be adhered to in order to enhance cell viability. Clinical consultation is recommended to interpret results within the context of patient history and family dynamics.

Limitations

This analysis is concentrated on the coding regions of the ABCB11 gene, which are amplified and sequenced using automated methods. It does not detect mutations that may occur in the promoter or deep intronic regions. In addition, inversions cannot be identified by this testing. The panel focuses on a defined set of known pathogenic variants; therefore, the identification of novel variants may require further investigation or functional studies to ascertain their clinical significance. A comprehensive genetic evaluation may be needed to fully assess the genetic context of PFIC2.

Test Details