Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000552207.1
Registered in GTR:
2016-10-27
View version history
GTR000552207.1,
registered in GTR:
2016-10-27
Last annual review date for the lab: 2024-10-24
LinkOut
At a Glance
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: 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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Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's website
View lab's test page
View lab's website
View lab's test page
Specimen Source:
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- Cord blood
- Dried blood spot (DBS) card
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Health Care Provider
Test Order Code:
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Lab contact:
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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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Customers will need to complete a separate Requisition Form for each patient and include it in the specimen kit provided. Before shipping, please verify that patient information and patient ID number on the form matches that on the specimen.
Order URL
Order URL
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 strategy,
Test development
Conditions
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Total conditions: 5
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 31
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
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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Follow ACMG Standards and Guidelines for interpreting sequence variants.
Follow ACMG Standards and Guidelines for interpreting sequence variants.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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
Test Confirmation:
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Pathogenic and likely pathogenic variants are confirmed via Sanger sequencing.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical validity for this analysis is > 98%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
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:
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.