A cholestasis genetic panel could improve the diagnosis of patients with cholestasis and/or chronic liver disease, although biochemical and histological studies remain first options, according to a study recently presented as a poster at the annual meeting of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition.

The use of the cholestasis genetic panel in a cohort of 149 subjects aided in diagnosing 11.4% of the population. The most frequently diagnosed disorders were Alagille syndrome (ALGS), alpha-1 antitrypsin deficiency (AATD), and Dubin-Johnson syndrome.

“More studies are showing the utility of genetic testing in evaluating patients with cholestasis and chronic liver disease, thereby reshaping the diagnostic algorithm,” the authors wrote in the Journal of Pediatric Gastroenterology and Nutrition.

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In addition, 7% of subjects presented with genetic mutations or variants of unknown significance that are potentially pathogenic as suggested by the carrier’s phenotype. The researchers identified variants of unknown significance involving ABCC2, PKHD1, ABCB4, and ABC11 genes. Such variants should be addressed in future dedicated studies to determine their biological and clinical relevance.

Read more about ALGS diagnosis

Twenty-six subjects tested negative in the cholestasis genetic panel. Further analysis showed that subjects older than 2 years (n=63, 42%) with a negative genetic test were not likely to develop severe liver disease (estimated likelihood of 0).

The study enrolled 149 participants who underwent genetic evaluation for cholestasis and chronic liver disease at the Children’s Medical Center Dallas between January 2015 and December 2020. The Emory Genetics Laboratory performed the multigene panel.

Read more about AATD diagnosis


Halaby C, Umana L, Ramirez C, Aqul A. The utility of genetic testing in identifying causes of neonatal cholestasis and pediatric chronic liver disease. J Pediatr Gastroenterol Nutr. 2022;75(S1):S217. doi:10.1097/01.mpg.0000874644.07593.cd