GTR Test Accession:
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GTR000558344.2
Last updated in GTR: 2017-11-03
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GTR000558344.2, last updated: 2017-11-03
GTR000558344.1, last updated: 2017-10-12
Last annual review date for the lab: 2020-12-01
Past due
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At a Glance
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
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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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,
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 9
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 78
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
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
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The same sample set of four 1000 Genome reference samples was used to evaluate the analytical sensitivity and specificity. The analytical sensitivity and specificity was 98.86% and 99.97%, respectively_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F_x005F This study yielded 98.86 % accuracy for 56 analyzed genes in 4 samples across all batches, samples and replicates of the reference …
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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
Reviews:
Clinical resources:
Consumer resources:
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