Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000593816.3
CAP
Last updated in GTR:
2021-08-24
View version history
GTR000593816.3,
last updated:
2021-08-24
GTR000593816.2,
last updated:
2021-08-23
GTR000593816.1,
registered in GTR:
2021-08-20
Last annual review date for the lab: 2024-06-14
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment; ...
Conditions (6):
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Genes (1):
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FMR1 (Xq27.3)
Methods (2):
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Molecular Genetics - Methylation analysis: Methylation-specific PCR; ...
Target population: Help
Individuals with clinical features overlapping with Fragile X syndrome (e.g. …
Clinical validity:
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This assay will detect the CGG trinucleotide expansion in >99% …
Clinical utility:
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Establish or confirm diagnosis;
Reproductive decision-making
Ordering Information
Offered by:
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Test short name:
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Fragile X
Specimen Source:
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- Cord blood
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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FRAGX
View other test codes
View other test codes
Contact Policy:
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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:
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Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL
Order URL
Test development:
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Manufactured (research use only; not FDA-reviewed)
Informed consent required:
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No
Test strategy:
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PCR analysis will be performed to evaluate the number of CGG repeats. For diagnostic testing, if a premutation (55-200 repeats) or a full mutation (>200 repeats) is detected by PCR, then reflex to methylation analysis will be automatically performed.
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test
Conditions
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Total conditions: 6
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Methylation analysis
Methylation-specific PCR
Targeted variant analysis
Tetra-nucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical validity:
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This assay will detect the CGG trinucleotide expansion in >99% of individuals with Fragile X syndrome and other FMR1-related disorders.
View citations (2)
- 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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. PMID: 20301558.
- https://www.ncbi.nlm.nih.gov/books/NBK1384
Clinical utility:
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Establish or confirm diagnosis
Reproductive decision-making
View citations (2)
- 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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. PMID: 20301558.
- https://www.ncbi.nlm.nih.gov/books/NBK1384
Reproductive decision-making
View citations (2)
- 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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. PMID: 20301558.
- https://www.ncbi.nlm.nih.gov/books/NBK1384
Target population:
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Individuals with clinical features overlapping with Fragile X syndrome (e.g. intellectual disability, autism spectrum disorder, etc.) or other FMR-1 related disorders (e.g. late onset progressive cerebellar ataxia, intention tremor, premature ovarian failure, etc.).
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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VUS and novel variants will be interpreted by trained variant analysis team member and a lab director using the current ACMG variant classification criteria.
VUS and novel variants will be interpreted by trained variant analysis team member and a lab director using the current ACMG variant classification criteria.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. No systemic re-evaluation of previously reported variants/findings are currently performed. However, if the same variant/finding is identified in another patient and current assessment results in change in variant classification/interpretation, then the laboratory will recontact the ordering provider and issue an updated report.
Yes. No systemic re-evaluation of previously reported variants/findings are currently performed. However, if the same variant/finding is identified in another patient and current assessment results in change in variant classification/interpretation, then the laboratory will recontact the ordering provider and issue an updated report.
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity >99%. Analytical Specificity >99%. Accuracy/Precision >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
VUS:
Laboratory's policy on reporting novel variations
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Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
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:
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Category:
Not Applicable
Additional Information
Clinical resources:
Practice guidelines:
Consumer resources:
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.