ABCB11 Sequence Analysis

Clinical Use

Use

The ABCB11 Sequence Analysis is designed to identify pathogenic variants related to progressive familial intrahepatic cholestasis type 2 (PFIC2). This genetic disorder results from impaired transport of bile salts out of the liver, leading to cholestasis, and may progress to serious complications such as hepatic fibrosis and cirrhosis. Early identification is crucial, especially for symptomatic patients and those with a family history of PFIC2, as well as for individuals planning pregnancies in such families. Individuals with null variants of the ABCB11 gene face a higher risk of liver disease and potentially hepatocellular carcinoma. Testing can inform treatment options and family planning decisions.

Special Instructions

This test requires specific specimen types. Blood samples should be collected in an EDTA tube and maintained at room temperature for overnight shipping to the lab. Saliva can be collected using an Oragene DNA kit and must also be shipped at room temperature. It is important to note that samples cannot be frozen before shipment.

Limitations

This test specifically identifies variants in the ABCB11 gene and may not detect other genetic causes of cholestasis. Variants of uncertain significance might be reported, which could lead to ambiguity in diagnosis. Patients with normal results may still be at risk for PFIC2; clinical correlation is necessary. Furthermore, variants in regulatory regions or multi-gene interactions are not assessed. Negative results do not eliminate the presence of a genetic predisposition to disease. Comprehensive genetic counseling before and after testing is recommended to fully understand the implications of test results.

Test Details