GTR Test Accession:
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GTR000531694.3
Last updated in GTR:
2019-07-09
View version history
GTR000531694.3,
last updated:
2019-07-09
GTR000531694.2,
last updated:
2018-08-03
GTR000531694.1,
registered in GTR:
2016-06-09
Last annual review date for the lab: 2023-08-04
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Hemolytic uremic syndrome, atypical, susceptibility to, 1
Genes (1):
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ADAMTS13 (9q34.2)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next Generation Sequencing (NGS)
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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- Isolated DNA
- Peripheral (whole) blood
- Saliva
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Public Health Mandate
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.
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,
Lab contact for this test,
Test strategy,
Test development
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
Next Generation Sequencing (NGS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
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
Test Platform:
ILLUMINA
Availability:
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Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity:
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Combination of NGS, Sanger re-sequencing provides 100% sensitivity.
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:
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.