Fragile X syndrome
GTR Test Accession: Help GTR000004036.4
Last updated in GTR: 2023-09-25
Last annual review date for the lab: 2023-09-25 LinkOut
At a Glance
Diagnosis; Predictive; Risk Assessment
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1
Genes (1): Help
FMR1 (Xq27.3)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
1) Individuals, male or female, with intellectual disability, developmental delay, …
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
Manufacturer's name: Help
Asuragen Amplidex FMR1 PCR kit as needed
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Lab contact: Help
Claudia Carriles, MS, Certified Genetic counselor, CGC, Genetic Counselor
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
4 ml EDTA whole blood, shipped at room temperature
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
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:
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
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; Predictive; Risk Assessment
Target population: Help
1) Individuals, male or female, with intellectual disability, developmental delay, or autism. 2) Individuals with a family history of developmental delay that is compatible with an X-linked inheritance pattern. 3) Individuals with late-onset neurodegenerative disorders suggestive of FXTAS. 4) Females with premature ovarian failure. 5) At-risk individuals with a family … View more
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Technical Information
Test Procedure: Help
As indicated reflex following PCR Trinucleotide repeat via Asuragen Amplidex FMR1 PCR kit
Test Comments: Help
This clinical service test is available to Canadian residents only
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy (59/59) = 100%; Specificity (37/37) = 100%; Sensitivity (22/22) = 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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