GTR Test Accession:
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GTR000511497.14
Last updated in GTR: 2018-09-14
View version history
GTR000511497.14, last updated: 2018-09-14
GTR000511497.13, last updated: 2018-07-03
GTR000511497.12, last updated: 2018-06-26
GTR000511497.11, last updated: 2018-05-01
GTR000511497.10, last updated: 2017-12-04
GTR000511497.9, last updated: 2016-03-30
GTR000511497.8, last updated: 2016-03-08
GTR000511497.7, last updated: 2016-01-28
GTR000511497.6, last updated: 2015-09-18
GTR000511497.5, last updated: 2015-09-04
GTR000511497.4, last updated: 2015-08-14
GTR000511497.3, last updated: 2015-06-01
GTR000511497.2, last updated: 2015-02-27
GTR000511497.1, last updated: 2014-06-06
Last annual review date for the lab: 2023-06-19
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (3):
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Fragile X-associated tremor/ataxia syndrome; Fragile X syndrome; Premature ovarian failure 1
Genes (1):
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FMR1 (Xq27.3)
Methods (2):
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Molecular Genetics - Methylation analysis: Methylation-specific PCR; ...
Target population: Help
Candidates for FMR1 testing include males with intellectual disability and …
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
- 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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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: 558
OrderCode: 558
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: 3
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: 2
Method Category
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Test method
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Instrument *
Methylation analysis
Methylation-specific PCR
Microsatellite instability testing (MSI)
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Target population:
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Candidates for FMR1 testing include males with intellectual disability and males or females with family history of FXS or intellectual disability of unknown cause. FMR1 testing should also be considered for males with symptoms of FXTAS in which variations in the SCA genes have been ruled out, and females with …
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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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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A total of twenty-two samples were used for test validation. These include: two DNA samples from Asuragen, ten DNA samples from Coriell Cell Respositories, 13 DNA samples previously tested at other laboratories and control DNA samples from Coriell Cell Respositories.
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:
Practice guidelines:
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.