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Fragile X Analysis (PCR only)
Clinical Genetic Test
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offered by
IU Genetic Testing Laboratories
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GTR Test Accession: Help GTR000569820.1
CAP
INHERITED DISEASESYNDROMIC DISEASE
Registered in GTR: 2019-12-30
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Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Fragile X syndrome
Genes (1): Help
FMR1 (Xq27.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
FMR1 mutation analysis is recommended for individuals with developmental delay, …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
IU Genetic Testing Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
53025441
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
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
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: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
FMR1 mutation analysis is recommended for individuals with developmental delay, unexplained mental retardation, autism; females indicating primary ovarian insufficiency; males with tremor/ataxia; or carrier testing of individuals with a positive family history of FMR1-related disorders.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity are >99% (when compared against referent method).
View citations (1)
  • none
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.