Invitae Cholestasis Panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000597290.1
Last updated: 2022-10-11
Test version history
- 597290.1, last updated: 2022-10-11

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Benign recurrent intrahepatic cholestasis type 2
Offered by Invitae

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic, Therapeutic management

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.

Imported from Human Phenotype Ontology (HPO)

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

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Conditions tested

The Invitae Cholestasis Panel analyzes a broad range of genes to determine the etiology of cholestasis in both isolated or syndromic forms, including Alagille syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, or progressive familial intrahepatic cholestasis.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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Invitae Cholestasis Panel

Indication

Clinical summary

Imported from GeneReviews

Clinical features