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Hereditary Hearing Loss-Common and Non-Syndromic Hearing Loss Panel
Clinical Genetic Test
Help
offered by
Genome Diagnostics Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000500219.3
CAP
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2022-10-27
View version history
Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (64): Help
Deafness; Autosomal dominant nonsyndromic hearing loss 1; Autosomal dominant nonsyndromic hearing loss 10 more...
Genes (57): Help
ACTG1 (17q25.3); CHD7 (8q12.2); CLDN14 (21q22.13); COCH (14q12); DIAPH1 (5q31.3) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genome Diagnostics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Lab contact: Help
Martin Somerville, PhD, Lab Director
[email protected]
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
Requests are made from the referring health care provider through completion of the Molecular Genetics test requisition
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 64
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 57
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
Microarray
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Novel variations are evaluated using a variety of algorithms including splice site analysis, sequence conservation within species and isoforms and functional estimation (i.e. SIFT, Polyphen, AlignGVGD & Mutation Taster), in addition to allele frequency in population controls and published literature. If the variation cannot be placed into a pathogenic or … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. They must contact us and want further information if they act on behalf of the patient
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is greater than 99.9% sensitive for detecting substitution variants (95% confidence interval: 99.7 to 99.9%) and 87.9% sensitive for detecting small insertions or deletions (95% confidence interval: 81.4 to 92.3%).
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
SIFT, POLYPHEN, Mutation Taster, Splicing Programs

Laboratory's policy on reporting novel variations Help
They are reported as such
Recommended fields not provided:
Test Confirmation, 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: Not Applicable
Additional Information
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.