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GTR Home > Tests > Gaucher disease (GBA gene)


Test order codeHelp: 2722

Test name


Gaucher disease (GBA gene) (Gaucher disease)

Purpose of the test


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



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How to order


Not provided

Specimen source

Buccal swab
Isolated DNA
Peripheral (whole) blood


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


Establish or confirm diagnosis


Clinical validity


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.

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

Test services

  • 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

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