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HK1 Deletion/duplication analysis
Clinical Genetic Test
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offered by
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000521984.2
INHERITED DISEASEMETABOLIC DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2015-09-24
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Last annual review date for the lab: 2024-07-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (2): Help
Hemolytic anemia due to hexokinase deficiency; Charcot-Marie-Tooth disease type 4G
Genes (1): Help
HK1 (10q22.1)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
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
[email protected]
513-636-4474
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
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, Specimen source, Test strategy, Test development
Conditions Help
Total conditions: 2
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
Comparative Genomic Hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, 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
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
Yes

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation, Citations to support 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
Category: FDA exercises enforcement discretion
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.