Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000600264.4
Last updated in GTR:
2022-12-06
View version history
GTR000600264.4,
last updated:
2022-12-06
GTR000600264.3,
last updated:
2022-11-22
GTR000600264.2,
last updated:
2022-10-20
GTR000600264.1,
registered in GTR:
2022-10-17
Last annual review date for the lab: 2024-04-17
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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Autosomal recessive nonsyndromic hearing loss 16
Genes (1):
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STRC (15q15.3)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
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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- Cord blood
- Dried blood spot (DBS) card
- Fibroblasts
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- Skin
Who can order: Help
- Health Care Provider
- Licensed Physician
Lab contact:
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Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
864-388-1055
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
334-246-3647
[email protected]
864-388-1055
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
334-246-3647
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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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: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
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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Alterations in the stereocilin (STRC) gene are the most common genetic etiology in patients with mild to moderate hearing loss, accounting for roughly 30% of patients in this group, and 16% among all patients with hearing loss. Most variants were large copy number variants (CNVs).
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
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.