GTR Test Accession:
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GTR000208505.2
Last updated in GTR:
2017-12-19
View version history
GTR000208505.2,
last updated:
2017-12-19
GTR000208505.1,
registered in GTR:
2016-12-28
Last annual review date for the lab: 2021-11-30
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-implantation genetic diagnosis; ...
Conditions (3):
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Pendred syndrome;
Autosomal recessive nonsyndromic hearing loss 4;
Mondini defect
Genes (1):
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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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Test short name:
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SLC26A4
Specimen Source:
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- Amniocytes
- Chorionic villi
- Cord blood
- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
Test Order Code:
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PENDRED
View other test codes
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CPT codes:
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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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Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Informed consent required:
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Based on applicable state law
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:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 3
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
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-implantation genetic diagnosis;
Screening
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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Full sequence analysis of exons 2-21 of SLC26A4 gene
Test Confirmation:
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All variant findings are confirmed via Sanger sequencing.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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greater than 99%
Assay limitations:
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Mosaicism may not be detected by this analysis.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-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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Not provided
Additional Information
Clinical resources:
IMPORTANT NOTE:
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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.