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Otogenetics Usher Multi-Gene NGS Panel
Clinical Genetic Test
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offered by
Otogenetics
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GTR Test Accession: Help GTR000592946.1
CAP
INHERITED DISEASESYNDROMIC DISEASE
Registered in GTR: 2021-04-14
View version history
Last annual review date for the lab: 2022-04-15 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring; Risk Assessment; ...
Conditions (10): Help
Usher syndrome type 1; Usher syndrome type 1C; Usher syndrome type 1D more...
Genes (10): Help
ADGRV1 (5q14.3); CDH23 (10q22.1); CLRN1 (3q25.1); MYO7A (11q13.5); PCDH15 (10q21.1) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Usher's syndrome represents about half of all people who are …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Otogenetics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Licensed Physician
  • Nurse Practitioner
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Contact Policy: Help
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: Help
Download and complete Test Requisition form and submit with specimen.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: oto-usher-gtr
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina Novaseq
Clinical Information
Test purpose: Help
Diagnosis; Monitoring; Risk Assessment; Therapeutic management
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Usher's syndrome represents about half of all people who are both deaf and blind. It is beneficial to diagnose children before they develop the characteristic night blindness and allows for a more focused medical management for the patient and family.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
https://www.otogenetics.com/genepanels/usher-gene-panel

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
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: Help
Select loci validated via Sanger
Availability: Help
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.
Analytical Validity: Help
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? Help
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 Help
https://www.otogenetics.com/genepanels/usher-gene-panel

Laboratory's policy on reporting novel variations Help
https://www.otogenetics.com/genepanels/usher-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: Help
Category: FDA exercises enforcement discretion
Additional Information

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.