GTR Test Accession:
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GTR000568277.4
CAP
Last updated in GTR: 2020-08-10
View version history
GTR000568277.4, last updated: 2020-08-10
GTR000568277.3, last updated: 2020-08-06
GTR000568277.2, last updated: 2020-08-05
GTR000568277.1, last updated: 2019-08-14
Last annual review date for the lab: 2024-07-31
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Fragile X syndrome
Genes (1):
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FMR1 (Xq27.3)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Not provided
Clinical validity:
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CGG-repeat-expansion full mutations account for >99% of cases of fragile …
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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SXF
Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Licensed Physician
Test Order Code:
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2642
Lab contact:
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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.
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
How to Order,
Test strategy,
Test development
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 *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical validity:
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CGG-repeat-expansion full mutations account for >99% of cases of fragile X syndrome. Therefore, tests that effectively detect and measure the CGG-repeat region of the FMR1 gene are >99% sensitive.
View citations (1)
- Monaghan KG, Lyon E, Spector EB, . ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013;15(7):575-86. doi:10.1038/gim.2013.61. Epub 2013 Jun 13. PMID: 23765048.
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Monaghan KG, Lyon E, Spector EB, . ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013;15(7):575-86. doi:10.1038/gim.2013.61. Epub 2013 Jun 13. PMID: 23765048.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Decline to answer.
Decline to answer.
Recommended fields not provided:
Target population,
What is the protocol for interpreting a variation as a VUS?,
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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50 patients with fragile-X Syndrome and 10 samples of CAP were analyzed using the AmplideX® kit (TP-PCR). It was possible to establish the number of CGG repeats in 100% of the cases (up to 200 repetitions). The results were compared with those obtained by Southern blot. 2 patients with mosaicism …
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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
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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:
Practice guidelines:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.