Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000500474.5
Last updated in GTR:
2019-10-16
View version history
GTR000500474.5,
last updated:
2019-10-16
GTR000500474.4,
last updated:
2019-09-12
GTR000500474.3,
last updated:
2015-11-10
GTR000500474.2,
last updated:
2013-11-27
GTR000500474.1,
registered in GTR:
2013-11-27
Last annual review date for the lab: 2024-07-01
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (1):
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Pendred syndrome
Genes (3):
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FOXI1 (5q35.1);
KCNJ10 (1q23.2);
SLC26A4 (7q22.3)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
View lab's website
View lab's test page
Test short name:
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Pendred Panel
Lab contact:
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Contact Policy:
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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:
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Complete the appropriate test requisiton and have it signed by the referring physician.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Decline to answer
Test strategy:
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Individual full sequencing is available for all three genes on this panel. Pendred panel with reflex to OtoSeq available.
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Specimen source
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 3
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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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
Test Procedure:
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Mutation confirmation by Sanger sequencing
Test Confirmation:
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Mutation confirmation by Sanger sequencing
Test Comments:
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Individual gene sequencing through Sanger sequencing is also available.
Please see test requisition for information about reflex deletion/duplication analysis by array comparative genomic hybridization (aCGH).
Please see test requisition for information about reflex deletion/duplication analysis by array comparative genomic hybridization (aCGH).
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
Assay limitations:
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Small deletions and insertions of <10 bases are routinely detected by this technology. However, larger deletions, insertions and complex genetic events are not identified using this method. Mutations in regulatory regions or other untranslated regions are not detected by this test.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
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:
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Category:
Not Applicable
Additional Information
Clinical resources:
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.