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Fragile X Mutation
Clinical Genetic Test
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offered by
Molecular Diagnostic Laboratory
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GTR Test Accession: Help GTR000026021.8
CAP
INHERITED DISEASESYNDROMIC DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2023-11-29
View version history
Last annual review date for the lab: 2023-11-29 LinkOut
At a Glance
Test purpose: Help
Risk Assessment; Diagnosis; Screening
Conditions (3): Help
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1
Genes (1): Help
FMR1 (Xq27.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Fragile X Syndrome is an X-linked dominant disorder and the …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
View lab's test page
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
acushman@unmc.edu
402-559-3512
Sophia Hauxwell, Manager
shauxwell@nebraskamed.com
402-559-5104
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
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
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: 1
Method Category Help
Test method Help
Instrument
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 2019 Nov 21]. 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.
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
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
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

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.