GTR Test Accession:
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GTR000560988.5
Last updated in GTR:
2023-02-14
View version history
GTR000560988.5,
last updated:
2023-02-14
GTR000560988.4,
last updated:
2023-01-20
GTR000560988.3,
last updated:
2020-02-13
GTR000560988.2,
last updated:
2018-06-28
GTR000560988.1,
registered in GTR:
2018-06-26
Last annual review date for the lab: 2024-01-22
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (1):
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Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
Genes (1):
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STRC (15q15.3)
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Quantitative PCR (qPCR); ...
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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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Bone marrow
- Buccal swab
- Buffy coat
- Cell culture
- Chorionic villi
- Cord blood
- Dried blood spot (DBS) card
- Fetal blood
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- White blood cell prep
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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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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After obtaining the patient specimen and patient information, please ship us the specimen and accompanying information to 1920 NE Stucki Ave, Suite 150, Hillsboro, OR 97006
The patient information and test details can be provided one of two ways:
1. Via our online submission platform (https://www.molecularvisionlab.com/of/samplesub/#login) - once …
The patient information and test details can be provided one of two ways:
1. Via our online submission platform (https://www.molecularvisionlab.com/of/samplesub/#login) - once …
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
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
Conditions
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Total conditions: 1
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: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Quantitative PCR (qPCR)
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;
Predictive;
Risk Assessment;
Screening;
Therapeutic management
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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VUS is called when the identified variation is: (1) novel (not in any database); (2) rare (allele frequency <0.005) with no additional information available or called VUS by published references and/or ClinVar; (3) rare (allele frequency <0.005) and called as a mutation by only one published reference
VUS is called when the identified variation is: (1) novel (not in any database); (2) rare (allele frequency <0.005) with no additional information available or called VUS by published references and/or ClinVar; (3) rare (allele frequency <0.005) and called as a mutation by only one published reference
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. We either call or email by using the information provided to us in the requisition forms.
Yes. We either call or email by using the information provided to us in the requisition forms.
Sample reports:
Sample Negative Report
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Sample Negative Report
Sample Positive Report Help
Sample Positive Report
Sample VUS Report Help
Sample VUS Report
Sample Negative Report
Sample Positive Report Help
Sample Positive Report
Sample VUS Report Help
Sample VUS Report
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
Is research allowed on the sample after clinical testing is complete?
Technical Information
Test Procedure:
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NGS of entire STRC gene, TaqMan qPCR for deletion/duplication analysis
Test Confirmation:
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Independent repeat testing
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Ongoing clinical validation. Sensitivity and accuracy in mutation calling for 8 positive control samples was 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Software used to interpret novel variations
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ExAC, dbSNP, ClinVar, MVL database
Laboratory's policy on reporting novel variations Help
We report novel variants unless clients specifically state that they don't want us to include novel variants in reports.
ExAC, dbSNP, ClinVar, MVL database
Laboratory's policy on reporting novel variations Help
We report novel variants unless clients specifically state that they don't want us to include novel variants in reports.
Recommended fields not provided:
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:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Consumer 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.