GTR Test Accession:
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GTR000500465.4
Last updated in GTR: 2018-11-15
View version history
GTR000500465.4, last updated: 2018-11-15
GTR000500465.3, last updated: 2018-03-06
GTR000500465.2, last updated: 2014-12-04
GTR000500465.1, last updated: 2013-11-28
Last annual review date for the lab: 2024-04-16
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic
Conditions (1):
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Arrhythmogenic right ventricular dysplasia 5
Genes (1):
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TMEM43 (3p25.1)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
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
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
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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Using our website
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Test strategy:
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Simultaneous bi-directional sequencing of all coding exons
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test Order Code,
Lab contact for this test
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
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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The 5-classes classification method (Alamut)
The 5-classes classification method (Alamut)
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
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?,
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
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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This test detects >99% of described 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
European Molecular Genetics Quality Network, EMQN
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations
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Alamut (Interactive Biosoftware), including AGVGD, PolyPhen-2, SIFT and MutationTaster for missense predictions and MAXEntScan, NNSPLICE, GeneSplicer and Human Splicing Finder for splice predictions
Alamut (Interactive Biosoftware), including AGVGD, PolyPhen-2, SIFT and MutationTaster for missense predictions and MAXEntScan, NNSPLICE, GeneSplicer and Human Splicing Finder for splice predictions
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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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular 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.