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GTR Home > Tests > CentoNephro Plus Panel

CentoNephro Plus Panel

  • GTR Test IDHelp: GTR000597608.1
  • Last updated: 2022-11-01
  • Test version history

Clinical testHelp for Progressive familial intrahepatic cholestasis type 2
Offered by Centogene AG - the Rare Disease Company

Indication

This is a clinical test intended for Help: Diagnosis

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)

  • Intrahepatic cholestasis
  • Diarrhea
  • Hepatomegaly
  • Cirrhosis of liver
  • Pruritus
  • Splenomegaly
  • Conjugated hyperbilirubinemia
  • Short stature
  • Fat malabsorption
  • Elevated circulating alkaline phosphatase concentration
  • Hepatocellular carcinoma
  • Failure to thrive
  • Intermittent jaundice
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

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Clinical utility

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.