GTR Test Accession:
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GTR000500219.3
CAP
Last updated in GTR: 2022-10-27
View version history
GTR000500219.3, last updated: 2022-10-27
GTR000500219.2, last updated: 2021-08-09
GTR000500219.1, last updated: 2019-08-09
Last annual review date for the lab: 2022-10-27
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (64):
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Deafness;
Autosomal dominant nonsyndromic hearing loss 1;
Autosomal dominant nonsyndromic hearing loss 10
more...
Genes (57):
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Microarray; ...
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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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
Lab contact:
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Martin Somerville, PhD, Lab Director
martin.somerville@sickkids.ca
martin.somerville@sickkids.ca
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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Requests are made from the referring health care provider through completion of the Molecular Genetics test requisition
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
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:
Test Order Code,
Test strategy
Conditions
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Total conditions: 64
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 57
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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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:
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Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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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
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?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No. They must contact us and want further information if they act on behalf of the patient
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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?
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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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SIFT, POLYPHEN, Mutation Taster, Splicing Programs
Laboratory's policy on reporting novel variations Help
They are reported as such
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:
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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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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.