Gaucher Disease: GBA Sequencing
GTR Test Accession: Help GTR000502132.11
CAP
INHERITED DISEASEMETABOLIC DISEASEOPHTHALMOLOGY ... View more
Last updated in GTR: 2022-12-06
Last annual review date for the lab: 2024-04-17 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Gaucher disease
Genes (1): Help
GBA1 (1q22)
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Greenwood Genetic Center Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Cord blood
  • Dried blood spot (DBS) card
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
kwalden@ggc.org
334-246-3647
Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
rfletcher@ggc.org
864-388-1055
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.
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
    Comment: Targeted mutation analysis for known pathogenic variants may be available for prenatal samples. Please contact the lab prior to sending any prenatal specimens.
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:
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: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Microarray
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequence method detects 99% of sequence variants
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
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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