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GTR Home > Tests > Gaucher disease (GBA gene)

Overview

Test order codeHelp: 2722

Test name

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Gaucher disease (GBA gene) (Gaucher disease)

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

Buccal swab
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

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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The complete sequencing of the GBA gene, allows detect variants in approximately 99% of the cases affected by Gaucher's disease. Almost 300 unique variants have been reported, with a distribution that spans the gene.

Citations
  • Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). - PubMed ID: 18338393

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased ß-glucocerebrosidase, Gaucher disease, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Gaucher Disease; Decreased beta-glucocerebrosidase activity, 2022
  • ACMG ACT, 2011
    American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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.