Fragile X Tremor/Ataxia Syndrome
GTR Test Accession: Help GTR000500327.3
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2021-10-22
Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Diagnosis; Risk Assessment
Fragile X-associated tremor/ataxia syndrome
Molecular Genetics - Methylation analysis: Methylation Sensitive Chemiluminescent Southern Blot; ...
Individuals with tremor/ataxia
Not provided
Not provided
Ordering Information
Offered by: Help
UCSF Molecular Diagnostics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
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
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
For all genetic testing, the patient should be informed of the test limitations and benefits. Adequate genetic counseling should be offered, and written informed consent should be obtained though it is not required to be submitted with the sample.
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Methylation analysis
Methylation Sensitive Chemiluminescent Southern Blot
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Target population: Help
Individuals with tremor/ataxia
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
PCR and Southern blot based assays detect 99% of the reported mutations in the FMR1 gene.
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.