GTR Test Accession:
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GTR000607882.1
Registered in GTR:
2023-05-26
View version history
GTR000607882.1,
registered in GTR:
2023-05-26
Last annual review date for the lab: 2024-05-28
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Predictive
Conditions (43):
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Dilated cardiomyopathy 1O;
3-methylglutaconic aciduria type 5;
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
more...
Genes (43):
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Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); 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
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Lab contact:
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Lars-Erik Wehner, MD, Genetic Counselor
[email protected]
+(49)-221-940505845
Sabrina Sauer, PhD, Staff
[email protected]
+(49)-221-940505682
Ulrich Zechner, PhD, Lab Director
[email protected]
+(49)-221-940505203
[email protected]
+(49)-221-940505845
Sabrina Sauer, PhD, Staff
[email protected]
+(49)-221-940505682
Ulrich Zechner, PhD, Lab Director
[email protected]
+(49)-221-940505203
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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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Genetic counseling
Informed consent required:
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Yes
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Test strategy,
Test development
Conditions
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Total conditions: 43
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 43
| 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 *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
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;
Mutation Confirmation;
Predictive
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variant classification is performed based on the criteria of ACMG (Richards et al., 2015) according to current knowledge. Variants of unknown significance could be reclassified at a later time point, if new information is published.
Variant classification is performed based on the criteria of ACMG (Richards et al., 2015) according to current knowledge. Variants of unknown significance could be reclassified at a later time point, if new information is published.
Will the lab re-contact the ordering physician if variant interpretation changes?
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.
.
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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The analytical sensitivity and specificity of each of our NGS panels is determined by the analysis of publically available well characterized DNA samples from the 1000 genomes project.
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
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:
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.