Fragile X Syndrome via the FMR1 CGG Repeat Expansion
GTR Test Accession: Help GTR000511497.14
INHERITED DISEASESYNDROMIC DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2018-09-14
Last annual review date for the lab: 2024-05-20 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Fragile X-associated tremor/ataxia syndrome; Fragile X syndrome; Premature ovarian failure 1
Genes (1): Help
FMR1 (Xq27.3)
Molecular Genetics - Methylation analysis: Methylation-specific PCR; ...
Candidates for FMR1 testing include males with intellectual disability and …
Not provided
Not provided
Ordering Information
Offered by: Help
PreventionGenetics, part of Exact Sciences
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
Contact Policy: Help
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: Help
Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 558
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Methylation analysis
Methylation-specific PCR
Microsatellite instability testing (MSI)
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
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 … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
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? Help
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? Help
Yes. Please visit our website for details http://preventiongenetics.com/
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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.