GTR Test Accession:
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GTR000552274.4
Last updated in GTR: 2021-01-15
View version history
GTR000552274.4, last updated: 2021-01-15
GTR000552274.3, last updated: 2020-02-13
GTR000552274.2, last updated: 2019-02-20
GTR000552274.1, last updated: 2016-11-08
Last annual review date for the lab: 2024-01-22
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (14):
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X-linked mixed hearing loss with perilymphatic gusher; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominant nonsyndromic hearing loss 3A; ...
Genes (3):
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GJB2 (13q12.11), GJB6 (13q12.11), 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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Specimen Source:
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- Chorionic villi
- Cord blood
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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http://www.molecularvisionlab.com
View other test codes
View other test codes
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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Blood: (1) 3-5ml in EDTA (lavender top tube); for patients under 1 year of age, we accept 1-2ml (minimum). Blood is our preferred specimen type to receive for testing. Blood Specimens should be received within 72 hours of collection if possible – maximum five days. Store specimen at ambient room …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom mutation-specific/Carrier testing
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,
Test development
Conditions
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Total conditions: 14
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
Variant Interpretation:
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.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Confirmation:
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NGS results are always confirmed by a separate PCR and 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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More than 40 samples with known results were retested with the panel. The results are 100% repeatable.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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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Not provided
Additional Information
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.