GTR Test Accession:
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GTR000511659.4
Last updated in GTR:
2020-07-14
View version history
GTR000511659.4,
last updated:
2020-07-14
GTR000511659.3,
last updated:
2019-10-09
GTR000511659.2,
last updated:
2018-10-10
GTR000511659.1,
registered in GTR:
2016-05-10
Last annual review date for the lab: 2024-08-12
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (6):
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Familial hyperaldosteronism;
Aldosterone-producing adrenal cortex adenoma;
Combined oxidative phosphorylation defect type 11
more...
Genes (5):
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CLCN2 (3q27.1);
CYP11B1 (8q24.3);
CYP11B2 (8q24.3);
KCNJ5 (11q24.3);
RMND1 (6q25.1)
Methods (3):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Uni-directional Sanger sequencing; ...
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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Who can order: Help
- Licensed Physician
Lab contact:
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Informed consent required:
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Yes
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,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 6
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 5
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment
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 Comments:
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Targeted PCR analysis for detection of the CYP11B1/2 fusion gene.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
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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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.