Fragile X Mutation
GTR Test Accession: Help GTR000026021.8
Last updated in GTR: 2023-11-29
Last annual review date for the lab: 2023-11-29 LinkOut
At a Glance
Risk Assessment; Diagnosis; Screening
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
Fragile X Syndrome is an X-linked dominant disorder and the …
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Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
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Specimen Source: Help
Who can order: Help
  • Physician Assistant
  • Licensed Physician
  • Nurse Practitioner
  • Health Care Provider
Test Order Code: Help
Fragile X Mutation
Lab contact: Help
Allison Cushman-Vokoun, PhD, MD, Medical Director
Sophia Hauxwell, Manager
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
Call Regional Pathology Services at 800-334-0459 to set up a new account.
Order URL
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
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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
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
Applied Biosystems 3500 capillary electrophoresis instrument
Clinical Information
Test purpose: Help
Risk Assessment; Diagnosis; Screening
Target population: Help
Fragile X Syndrome is an X-linked dominant disorder and the most common cause of inherited intellectual disability. It is caused by an expansion of CGG trinucleotide repeats in the FMR1 promoter region, hypermethylation of the promoter and transcriptional silencing. Full mutation males demonstrate moderate intellectual disability and full mutation females … View more
View citations (1)
  • Hunter JE, Berry-Kravis E, Hipp H, Todd PK. Disorders. 1998 Jun 16 [updated 2024 May 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301558.
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Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
PCR based assays are validated to 99% detectability of described mutations in the FMR1 gene.
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
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Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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