GTR Test Accession:
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GTR000552366.2
CAP
Last updated in GTR: 2017-03-01
View version history
GTR000552366.2, last updated: 2017-03-01
GTR000552366.1, last updated: 2016-11-29
Last annual review date for the lab: 2022-04-15
Past due
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At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Risk Assessment; ...
Conditions (122):
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Alagille syndrome due to a JAG1 point mutation;
Aminoglycoside-induced deafness;
Anophthalmia/microphthalmia-esophageal atresia syndrome
more...
Genes (128):
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Methods (1):
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Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Newborns who fail the mandatory hearing screen: -to precisely identify …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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Otogenetics Deafness Panel
Specimen Source:
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- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Licensed Physician
- Physician Assistant
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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Download and complete Test Requisition form and submit with specimen.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: oto-da3-gtr
OrderCode: oto-da3-gtr
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
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: 122
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 128
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq 2500
Clinical Information
Test purpose:
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Diagnosis;
Monitoring;
Risk Assessment;
Therapeutic management
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Xing J, Liu X, Tian Y, Tan J, Zhao H. Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases. Balkan J Med Genet. 2016;19(1):35-42. doi:10.1515/bjmg-2016-0005. Epub 2016 Aug 02. PMID: 27785406.
Target population:
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Newborns who fail the mandatory hearing screen: -to precisely identify the genetic cause -to select the best intervention/treatment Congenitally deaf patients for understanding the cause of their hearing loss and determining appropriate interventions/treatments Family members of congenital deaf persons to determine whether they are carriers of hearing loss mutation(s) Patients …
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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https://www.otogenetics.com/genepanels/deafness-gene-panel
https://www.otogenetics.com/genepanels/deafness-gene-panel
Will the lab re-contact the ordering physician if variant interpretation changes?
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No.
No.
Recommended fields not provided:
Clinical validity,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
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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Select loci validated via Sanger
Availability:
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Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Test performance comments
All tests performed in USA.
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Test performance comments
All tests performed in USA.
Analytical Validity:
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Target coverage of 100%. CAP Proficiency testing – 100%. Select loci validated against Sanger- 100% match
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations
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https://www.otogenetics.com/genepanels/deafness-gene-panel
Laboratory's policy on reporting novel variations Help
https://www.otogenetics.com/genepanels/deafness-gene-panel
https://www.otogenetics.com/genepanels/deafness-gene-panel
Laboratory's policy on reporting novel variations Help
https://www.otogenetics.com/genepanels/deafness-gene-panel
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
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
Clinical resources:
Molecular resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.