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GTR Home > Tests > Gilbert syndrome (UGT1A1 gene)

Overview

Test order codeHelp: 2185

Test name

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Gilbert syndrome (UGT1A1 gene) (Gilbert syndrome)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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Not provided

Specimen source

Amniotic fluid
Bone marrow
Buccal swab
Cell culture
Cord blood
Fetal blood
Fibroblasts
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
TTargeted variant analysis
Uni-directional Sanger sequencing

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations

Clinical validity

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Gilbert syndrome is present in ∼5–10% of the population. The prevalence of GS is lower in Chile compared to Europeans (~ 5%), the prevalence of UGT1A1*28 homozygotes is similar (~ 12%). In Chilean Hispanics, the UGT1A1*28 variant explain 75% of GS phenotype.

Citations

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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