GTR Test Accession:
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GTR000592289.1
CAP
Last updated in GTR: 2020-12-16
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GTR000592289.1, last updated: 2020-12-16
Last annual review date for the lab: 2021-10-29
Past due
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At a Glance
Methods (3):
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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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Based on applicable state law
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: 14
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 14
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 3
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)
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose:
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Screening
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
Interpretation performed at an outside lab
Report generated both in-house and at an outside lab
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab
Test performance comments
Final report generation done at Avero Diagnostics. Specimen preparation, wet lab work, and interpretation are performed at Baylor Miraca Genetics Laboratories DBA Baylor Genetics, 2450 Holcombe Blvd. Houston, TX 77021-2024
Interpretation performed at an outside lab
Report generated both in-house and at an outside lab
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab
Test performance comments
Final report generation done at Avero Diagnostics. Specimen preparation, wet lab work, and interpretation are performed at Baylor Miraca Genetics Laboratories DBA Baylor Genetics, 2450 Holcombe Blvd. Houston, TX 77021-2024
Analytical Validity:
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Our validation study demonstrated > 99% sensitivity and specificity for tested mutations.
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
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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Not provided
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.