GTR Test Accession:
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GTR000506088.15
Last updated in GTR:
2021-06-16
View version history
GTR000506088.15,
last updated:
2021-06-16
GTR000506088.14,
last updated:
2021-05-05
GTR000506088.13,
last updated:
2021-05-04
GTR000506088.12,
last updated:
2020-09-09
GTR000506088.11,
last updated:
2019-01-09
GTR000506088.10,
last updated:
2018-10-18
GTR000506088.9,
last updated:
2018-07-03
GTR000506088.8,
last updated:
2017-12-04
GTR000506088.7,
last updated:
2016-03-30
GTR000506088.6,
last updated:
2016-03-08
GTR000506088.5,
last updated:
2016-01-28
GTR000506088.4,
last updated:
2015-08-15
GTR000506088.3,
last updated:
2015-02-27
GTR000506088.2,
last updated:
2015-01-20
GTR000506088.1,
registered in GTR:
2014-06-06
Last annual review date for the lab: 2024-05-20
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (5):
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Genes (1):
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TMEM67 (8q22.1)
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Candidates for this test are patients with symptoms consistent with …
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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- Cell culture
- Fetal blood
- Fibroblasts
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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15205
View other test codes
View other test codes
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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Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 15205
Custom Deletion/Duplication Testing
OrderCode: 15205
Custom Sequence Analysis
OrderCode: 100, 200, 300
Maternal cell contamination study (MCC)
OrderCode: 800
OrderCode: 15205
Custom Deletion/Duplication Testing
OrderCode: 15205
Custom Sequence Analysis
OrderCode: 100, 200, 300
Maternal cell contamination study (MCC)
OrderCode: 800
Test additional service:
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Custom Prenatal Testing
OrderCode: 990
OrderCode: 990
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 5
Condition/Phenotype | Identifier |
---|
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: 3
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Target population:
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Candidates for this test are patients with symptoms consistent with MKS, NPH, JBTS, and COACH syndrome, and family members of patients with known mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TMEM67.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely … View more
The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely … View more
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.
Yes. Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. Please visit our website for details http://preventiongenetics.com/
Yes. Please visit our website for details http://preventiongenetics.com/
Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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We use a combination of Next Generation Sequencing (NGS) and Sanger sequencing technologies to cover the full coding regions of the listed genes plus ~10 bases of non-coding DNA flanking each exon. As required, genomic DNA is extracted from the patient specimen. For NGS, patient DNA corresponding to these regions …
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Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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As of March 2016, 6.36 Mb of sequence (83 genes, 1557 exons) generated in our lab was compared between Sanger and NextGen methodologies. We detected no differences between the two methods. The comparison involved 6400 total sequence variants (differences from the reference sequences). Of these, 6144 were nucleotide substitutions and …
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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
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.
Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.
Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
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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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Consumer 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.