GTR Test Accession:
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GTR000502909.4
CAP
Last updated in GTR: 2018-09-24
View version history
GTR000502909.4, last updated: 2018-09-24
GTR000502909.3, last updated: 2017-08-07
GTR000502909.2, last updated: 2016-07-27
GTR000502909.1, last updated: 2014-05-02
Last annual review date for the lab: 2021-10-14
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (1):
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Friedreich ataxia 1
Genes (1):
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FXN (9q21.11)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Individuals with an ataxia and lower limb weakness that may …
Clinical validity:
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The GAA trinucleotide repeat is found in 98% of individuals …
Clinical utility:
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Establish or confirm diagnosis;
Predictive risk information for patient and/or family members;
Reproductive decision-making
Ordering Information
Offered by:
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Test short name:
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FRDA
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Chorionic villi
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
LOINC codes:
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Lab contact:
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Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Test strategy
Conditions
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Total conditions: 1
| 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: 1
Method Category
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Test method
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Instrument
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
Applied Biosystems 3130 Capillary Sequencing System
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment
Clinical validity:
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The GAA trinucleotide repeat is found in 98% of individuals with FRDA.
Clinical utility:
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Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Reproductive decision-making
Predictive risk information for patient and/or family members
Reproductive decision-making
Target population:
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Individuals with an ataxia and lower limb weakness that may be exhibiting symptoms of Friedreich's Ataxia; the GAA trinucleotide repeat is found in 98% of individuals with FRDA. Individuals with a family history of FRDA who want to determine their true risk or prenatal risk.
Recommended fields not provided:
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 Procedure:
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Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation:
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Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
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, specificity and accuracy greater than 99%; determined by in-house validations.
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
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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:
Assay limitations,
Description of internal test validation method,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
IMPORTANT NOTE:
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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.