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Usher Panel
Clinical Genetic Test
Help
offered by
Molecular Otolaryngology and Renal Research Laboratories
View lab's test page
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GTR Test Accession: Help GTR000569741.4
INHERITED DISEASESYNDROMIC DISEASEEAR, NOSE, THROAT ... View more
Last updated in GTR: 2024-01-10
View version history
Last annual review date for the lab: 2024-01-11 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Prognostic
Conditions (16): Help
Usher syndrome; Hereditary hearing loss and deafness; Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive more...
Genes (9): Help
ADGRV1 (5q14.3); CDH23 (10q22.1); CLRN1 (3q25.1); MYO7A (11q13.5); PCDH15 (10q21.1) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
The Usher Panel simultaneously screens 9 genes known to cause …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Otolaryngology and Renal Research Laboratories
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
USH01
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Amy Weaver, Administrator
[email protected]
319-335-6623
Jori Hendon, BA, Administrator
[email protected]
319-335-6653
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
Sample types accepted include: 3-5 cc EDTA whole blood; 5 μg DNA, resuspended in at least 50 ul of DNA Elution Buffer; Saliva (DNA Genotek, ORAGene Discover, OGR-500); or Buccal Swabs, at least 4 (DNA Genotek, OraCollect, OCD-100). Samples can be received Monday - Friday (no weekend or holiday deliveries), …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: Includes next-generation sequencing and copy number variation studies (deletion/duplication studies).
Test additional service: Help
Custom mutation-specific/Carrier testing
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
Based on applicable state law
Test strategy: Help
The Usher Panel uses custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing. Data analysis is performed and results are discussed at a multidisciplinary meeting where each patient's variants are discussed individually and in the context of their unique clinical information to provide the most comprehensive diagnosis … View more
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 9
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Agilent SureSelect
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Agilent SureSelect
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Prognostic
Target population: Help
The Usher Panel simultaneously screens 9 genes known to cause Usher syndrome by using custom-targeted sequence capture for DNA enrichment followed by massively parallel DNA sequencing. Data analysis is performed and results are discussed at a multidisciplinary meeting. Each patient's variants are discussed individually and in the context of their … View more
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, 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: Help
targeted genomic enrichment and massively parallel sequencing
Test Platform:
None/not applicable
Test Confirmation: Help
We have shown experimentally variants with QD >10 do not require Sanger sequencing validation (PMID: 21078986). In cases where the QD is between 5 and 10 and/or the zygosity status is indeterminate, Sanger confirmation is performed. Quality control testing to detect specimen mislabeling or sample contamination (sample integrity check) is … View more
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed in-house

Test performance comments
DNA isolation from whole blood can be performed by the ordering healthcare provider's institution and/or send-out laboratory and DNA sent to MORL for testing.
Analytical Validity: Help
greater than 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
In addition to formal proficiency testing with EMQN, MORL performs in-house proficiency testing.
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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.