EPB42 Deletion/duplication analysis
GTR Test Accession: Help GTR000521964.2
Last updated in GTR: 2015-09-15
Last annual review date for the lab: 2024-07-01 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Hereditary spherocytosis type 5
Genes (1): Help
EPB42 (15q15.2)
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
Lab contact: Help
Lab Administration, Administrator
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
Complete the appropriate test requisition and have it signed by the referring physician.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Decline to answer
Test strategy: Help
Sequencing for this gene is included on the Hemolytic Anemia and RBC Membrane Disorders next-generation sequencing panels.
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 *
Deletion/duplication analysis
Comparative Genomic Hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy: >94%, sensitivity: >94%, precision: 100%
Assay limitations: Help
This assay may not detect deletions and duplications if present in <20% of the tested sample. In some cases, breakpoints may be difficult to determine. This assay is unable to detect genomic rearrangements, point mutations in the gene(s) of interest, or copy number changes in genes with corresponding pseudogenes.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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