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FMR1-Related Disorders
Clinical Genetic Test
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offered by
University of Iowa Diagnostic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000219909.1
CAP
INHERITED DISEASESYNDROMIC DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2013-05-23
View version history
Last annual review date for the lab: 2024-03-25 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1
Genes (1): Help
FMR1 (Xq27.3)
Methods (2): Help
Molecular Genetics - Methylation analysis: Trinucleotide repeat by PCR or Southern Blot; ...
Target population: Help
Not provided
Clinical validity: Help
More than 99% of individuals with fragile X syndrome have …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
University of Iowa Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
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 additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
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
Trinucleotide repeat by PCR or Southern Blot
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
More than 99% of individuals with fragile X syndrome have a loss-of-function mutation in FMR1 caused by an increased number of CGG trinucleotide repeats (typically >200) accompanied by aberrant methylation of FMR1.
Recommended fields not provided:
Clinical utility, Target population, 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
Test Comments: Help
PCR and Southern blot analysis if indicated
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity: 99%
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, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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