GTR Test Accession:
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GTR000222499.3
Last updated in GTR:
2015-11-26
View version history
GTR000222499.3,
last updated:
2015-11-26
GTR000222499.2,
last updated:
2014-11-26
GTR000222499.1,
registered in GTR:
2013-11-26
Last annual review date for the lab: 2024-09-04
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (1):
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Spinocerebellar ataxia type 17
Genes (1):
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TBP (6q27)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Ataxia patients
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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Test short name:
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SCA17
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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28-18
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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Completion of the laboratory referral letter by the referring physician/scientist. Provision of a signed informed consent form. Both forms are available on the laboratory website.
Order URL
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 but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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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 3130xl genetic analyser
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment
Clinical utility:
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Target population:
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Ataxia patients
View citations (1)
- SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Nakamura K, et al. Hum Mol Genet. 2001;10(14):1441-8. doi:10.1093/hmg/10.14.1441. PMID: 11448935.
Recommended fields not provided:
Clinical validity,
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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FAM labelled PCR and Applied Biosystems 3031xl automated fragment analysis of the CAG/CAA repeat expansion in the N-terminal region of the TBP gene on chromosome 6q27-qter. The normal range for the TBP (SCA17) CAG/CAA repeat alleles is 25 to 42 repeats. Pathological SCA17 alleles reported to date contain 46 to …
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View citations (1)
- SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Nakamura K, et al. Hum Mol Genet. 2001;10(14):1441-8. doi:10.1093/hmg/10.14.1441. PMID: 11448935.
Test Confirmation:
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different method or new sample
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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99% precise
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
European Molecular Genetics Quality Network, EMQN
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
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:
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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.