Fragile X Syndrome
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000500314.4
CAP
INHERITED DISEASESYNDROMIC DISEASE
Last updated in GTR: 2023-02-08
Last annual review date for the lab: 2023-02-08 Past due LinkOut
At a Glance
Diagnosis; Screening
Fragile X syndrome
Genes (1): Help
FMR1 (Xq27.3)
Molecular Genetics - Methylation analysis: Methylation-specific PCR; Trinucleotide repeat by PCR or Southern Blot; ...
This test confirms a diagnosis of Fragile X in patients …
Clinical specificity and sensitivity are approximately 99%-100% for full mutations …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Genetics Laboratory
View lab's website
Test short name: Help
FMR1
Specimen Source: Help
  • Fetal blood
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
CPT codes: Help
**AMA CPT codes notice
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
Samples should be submitted with the appropriate requisition form (DNA test request form). Samples are received Monday through Saturday. For DNA testing blood should be collected in EDTA or ACD tubes.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Prenatal tesing
FISH Analysis
Drug Metabolism testing
Cytogenetics Analysis
Maternal Serum Screening
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies
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: 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: 3
Method Category Help
Test method Help
Instrument
Methylation analysis
Methylation-specific PCR
BioRad CFX96
Methylation analysis
Trinucleotide repeat by PCR or Southern Blot
SeqStudio Genetic Analyzer (Thermofisher Scientific)
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
Clinical Information
Test purpose: Help
Diagnosis; Screening
Clinical validity: Help
Clinical specificity and sensitivity are approximately 99%-100% for full mutations and permutations.
View citations (1)
  • Eur J Hum Genet. 2011;19
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Eur J Hum Genet. 2011;19

Target population: Help
This test confirms a diagnosis of Fragile X in patients with mental retardation, minor facial anomalies, seizures, and behavioral problems including autistic tendencies, and especially in males with a positive family history of mental retardation. Screening is available since physical signs are subtle, and are difficult to recognize in affected … View more
Recommended fields not provided:
Technical Information
Test Procedure: Help
Positive results are confirmed by comparison to known positive controls
Test Confirmation: Help
Positive results are confirmed by comparison to known positive controls
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity for detection of full mutations associated with fragile X syndrome was 99% in males and 96% in females. The analytical sensitivity for detection of premutations was 98%, and the analytical specificity of testing was 99.9%. Data collected from CAP proficiency testing from 2001 to 2009.
View citations (1)
  • Weck KE, Zehnbauer B, Datto M, Schrijver I, . Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009). Genet Med. 2012;14(3):306-12. doi:10.1038/gim.2011.11. Epub 2012 Jan 05. PMID: 22241100.
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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.