GTR Test Accession:
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GTR000593149.1
Last updated in GTR: 2021-05-24
View version history
GTR000593149.1, last updated: 2021-05-24
Last annual review date for the lab: 2023-05-30
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Predictive; ...
Conditions (1):
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Dentatorubral-pallidoluysian atrophy
Genes (1):
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ATN1 (12p13.31)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Individuals with clinical features of dentatorubral-pallidoluysian atrophy
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
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Lab contact:
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Emily Lauer, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
gcmolgen@mayo.edu
1-800-533-1710
gcmolgen@mayo.edu
1-800-533-1710
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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https://www.mayocliniclabs.com/test-catalog/Specimen/35402
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
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 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 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Predictive;
Risk Assessment
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. Tsuji S, et al. Adv Neurol. 2002;89:231-9. PMID: 11968450.
Target population:
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Individuals with clinical features of dentatorubral-pallidoluysian atrophy
View citations (1)
- Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. Tsuji S, et al. Adv Neurol. 2002;89:231-9. PMID: 11968450.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete?
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Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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A PCR-based assay is used to amplify across the region of the ATN1 (DRPLA) gene containing the CAG repeats. Assay products are separated by capillary electrophoresis and are sized by comparison with an internal size standard.
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 are ≥ 99%
Assay limitations:
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For predictive testing, it is important to first document the presence of CAG-repeat amplification in the ATN1 gene in an affected family member to confirm that molecular expansion is the underlying mechanism of disease in the family. We strongly recommend that patients undergoing predictive testing receive genetic counseling both prior …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Platform PT performed
Yes
Method used for proficiency testing: Help
Platform PT performed
Recommended fields not provided:
Test Confirmation,
Citations to support 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:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
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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.