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Fragile X Syndrome Testing
Clinical Genetic Test
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offered by
UAB Medical Genomics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000568236.4
INHERITED DISEASESYNDROMIC DISEASE
Last updated in GTR: 2024-07-23
View version history
Last annual review date for the lab: 2023-06-07 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Predictive
Conditions (1): Help
Fragile X syndrome
Genes (1): Help
FMR1 (Xq27.3)
Methods (1): Help
Molecular Genetics - Methylation analysis: Tetra-nucleotide repeat by PCR or Southern Blot
Target population: Help
Patients with intellectual disability, developmental delay, autistic features, or a …
Clinical validity: Help
Allele sizing for CGG repeats in Fragile X testing and …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
UAB Medical Genomics Laboratory
View lab's website
View lab's test page
Test short name: Help
FRX
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
FRX
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Brandon Shaw, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
205-934-1520
Victoria Moy, MS, Genetic Counselor
[email protected]
205-934-5528
Contact Policy: Help
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Additional information regarding the specific details needed for test submission can be found on our website
Order URL
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Polymerase chain reaction analysis is used a first tier test to define the repeat size. If a full mutation is identified or suspected, a second tier of testing consists of Eco RI and Eag I restriction digest followed by Southern blot analysis using the DNA probe, StB12.3 to determine methylation … View more
View citations (1)
  • PTEN: one gene, many syndromes. Eng C, et al. Hum Mutat. 2003;22(3):183-98. doi:10.1002/humu.10257. PMID: 12938083.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
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: 1
Method Category Help
Test method Help
Instrument
Methylation analysis
Tetra-nucleotide repeat by PCR or Southern Blot
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Predictive
Clinical validity: Help
Allele sizing for CGG repeats in Fragile X testing and screening for expansions into the full mutation range.
Target population: Help
Patients with intellectual disability, developmental delay, autistic features, or a family history of Fragile X
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical utility, What is the protocol for interpreting a variation as a VUS?, 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 Procedure: Help
Polymerase chain reaction analysis is used a first tier test to define the repeat size. If a full mutation is identified or suspected, a second tier of testing consists of Eco RI and Eag I restriction digest followed by Southern blot analysis using the DNA probe, StB12.3 to determine methylation … View more
Test Confirmation: Help
Mutations found are confirmed on a second extraction from the original sample.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
41 samples were used for the validation of this assay including 11 mosaic dilutions, 3 CAP samples and 3 Coriell samples. An additional published "process control" sample composed of 4 different Coriell samples (6 different alleles) was also tested. In every case, the Asuragen reagents amplified all alleles. The PCR … View more
Assay limitations: Help
Lower detection limit: Samples that are 5% mosaic for full mutations in individuals with one X-chromosome or two X-chromosomes.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
Intra-laboratory with samples reanalyzed blindly
VUS:
Software used to interpret novel variations Help
Alamut, Google search, PolyPhen, SIFT, evolutionary consevation, grantham score, splicing prediction software, disorder specific databases as necessary
Recommended fields not provided:
Citations to support 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
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.