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GBA gene deletion/duplication analysis
Clinical Genetic Test
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offered by
Duzen Laboratories
GTR Test Accession: Help GTR000594886.1
INHERITED DISEASEOPHTHALMOLOGYMETABOLIC DISEASE ... View more
Registered in GTR: 2021-09-08
View version history
Last annual review date for the lab: 2023-09-15 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (5): Help
Gaucher disease type I; Gaucher disease perinatal lethal; Gaucher disease type II more...
Genes (1): Help
GBA1 (1q22)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Duzen Laboratories
View lab's website
Test Order Code: Help
6442
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 5
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 *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Expected to be >99% for the detection of deletions or duplications in the GBA gene if there is no reciprocal and nonreciprocal recombination between GBA and GBAP1 which result in gene conversion or gene fusion events.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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