Classic view of this page
Test for Gaucher Disease
Clinical Genetic Test
Help
offered by
Genome Diagnostics Laboratory
GTR Test Accession: Help GTR000021901.2
CAP
INHERITED DISEASEMETABOLIC DISEASEOPHTHALMOLOGY ... View more
Last updated in GTR: 2012-09-27
View version history
Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Gaucher disease
Genes (1): Help
GBA1 (1q22)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Allele-specific primer extension (ASPE)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genome Diagnostics Laboratory
View lab's website
Specimen Source: Help
  • Amniocytes
  • Chorionic villi
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Lab contact: Help
Leslie Steele, MSc, Co-ordinator
[email protected]
416-813-7200 ext 1
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
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Test Order Code, How to Order, Test strategy
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
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Allele-specific primer extension (ASPE)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
NA

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Mutation panel: GBA gene 84GG, IVS2+1G>A, N370S, N370T, L444P, delta 55bp, V394L, D409H, R496H
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
PCR-based assay detects 99% of the reported mutations in the GBA gene.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
n

Laboratory's policy on reporting novel variations Help
NA
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.