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FMR1 - Related Disorders
Clinical Genetic Test
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GENE
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GTR Test Accession: Help GTR000028906.2
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2013-02-15
View version history
Last annual review date for the lab: 2024-09-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Fragile X-associated tremor/ataxia syndrome
Genes (1): Help
FMR1 (Xq27.3)
Methods (1): Help
Molecular Genetics - Methylation analysis: Methylation-specific PCR
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Lab contact: Help
Sergio Pena, PhD, MD, FRCP(C), Lab Director
sdpena@gmail.com
+55 3132848000
Contact Policy: Help
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Test additional service: Help
Custom Prenatal Testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Specimen source, Test strategy, Test development
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
Methylation-specific PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
Test Comments: Help
Methodologies: methylation specific PCR and trinucleotide repeat by PCR. Test performed in males only.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100% sensitive for methylation analysis in males.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, 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.