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GTR Home > Tests > ABCB11 mutation analysis

ABCB11 mutation analysis

  • GTR Test IDHelp: GTR000500349.7
  • Last updated: 2023-04-13
  • Test version history

Clinical testHelp for Benign recurrent intrahepatic cholestasis type 2
Offered by Amsterdam UMC Genome Diagnostics

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Prognostic, Risk Assessment, Screening

Clinical summary

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Imported from GeneReviews

The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Cholelithiasis
  • Intrahepatic cholestasis
  • Hepatomegaly
  • Jaundice
  • Pruritus
  • Conjugated hyperbilirubinemia
  • Elevated circulating alkaline phosphatase concentration
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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For patients suspected to this particular and patients with a positive family history for this disease, gene sequence analysis is recommended as the first step in mutation identification.

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Predictive risk information for patient and/or family members

Citations

Not provided

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