Gaucher disease (GBA gene)
GTR Test Accession: Help GTR000568243.3
Last updated in GTR: 2020-08-10
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Gaucher disease
Genes (1): Help
GBA1 (1q22)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
The complete sequencing of the GBA gene, allows detect variants …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
Gaucher disease
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
Lab contact: Help
Marcela Lagos, MD, Lab Director
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
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.
View citations (1)
  • Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hruska KS, et al. Hum Mutat. 2008;29(5):567-83. doi:10.1002/humu.20676. PMID: 18338393.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • [Gaucher disease: clinical, genetic and therapeutic aspects]. Germain DP, et al. Pathol Biol (Paris). 2004;52(6):343-50. doi:10.1016/j.patbio.2003.09.018. PMID: 15261378.

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG-AMP guidelines for the interpretation of sequence variants, 2015 (PMID: 25741868).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For validation, the 11 coding exons of the functional GBA gene from 3 patients with Gaucher's disease were sequenced, finding reported pathogenic variants in all cases. Sanger sequencing of the entire coding region has a sensitivity of almost 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.