Classic view of this page
FMR1-related disorders
Clinical Genetic Test
Help
offered by
Molecular Genetics Diagnostic Laboratory
GTR Test Accession: Help GTR000005250.5
CAP
INHERITED DISEASESYNDROMIC DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2018-07-03
View version history
Last annual review date for the lab: 2024-04-29 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (3): Help
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1
Genes (1): Help
FMR1 (Xq27.3)
Methods (2): 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
Offered by: Help
Molecular Genetics Diagnostic Laboratory
View lab's website
Test short name: Help
Fragile X syndrome
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Chorionic villi
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
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
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
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:
Test Order Code, Lab contact for this test, Test strategy
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: 2
Method Category Help
Test method Help
Instrument
Methylation analysis
Methylation-specific PCR
Applied Biosystem 3130xl capillary sequencing instrument
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
Applied Biosystem 3130xl capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
analytical sensitivity 5%
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
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.