GTR Test Accession:
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GTR000522210.5
Last updated in GTR:
2022-04-13
View version history
GTR000522210.5,
last updated:
2022-04-13
GTR000522210.4,
last updated:
2021-02-09
GTR000522210.3,
last updated:
2018-10-08
GTR000522210.2,
last updated:
2016-09-09
GTR000522210.1,
registered in GTR:
2015-09-02
Last annual review date for the lab: 2024-05-22
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At a Glance
Test purpose:
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Diagnosis;
Predictive;
Therapeutic management
Conditions (2):
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Atypical hemolytic-uremic syndrome;
Thrombotic microangiopathy
CFHR3-CFHR1 deletion
Genes (13):
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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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Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Licensed Physician
- Nurse Practitioner
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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To order a test, complete and submit a requisition form that can be found on our website (gps.wustl.edu)
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
Test strategy:
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In addition to sequencing, MLPA for the CFHR3-CFHR1 deletion is sent to an outside CAP/CLIA laboratory.
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 development
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Genes
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Total genes: 13
| 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;
Predictive;
Therapeutic management
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 in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
CFHR3-CFHR1 deletion testing by MLPA performed in an outside CAP/CLIA lab.
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
CFHR3-CFHR1 deletion testing by MLPA performed in an outside CAP/CLIA lab.
Analytical Validity:
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The accuracy of SNV detection was assessed by comparison to the Complete Genomics gold standard variant set reported for HapMap sample NA19129 and to a high-confidence call sets generated from NA12878 and NA19240 at the McDonnell Genome Institute (Table 4). In all cases, positions queried are comprised of all exons …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
Inter-Laboratory
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:
IMPORTANT NOTE:
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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.