Ataxin 10 (ATXN10) gene ATTCT repeat test
GTR Test Accession: Help GTR000299393.3
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2015-11-26
Last annual review date for the lab: 2021-01-29 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Spinocerebellar ataxia type 10
Genes (1): Help
ATXN10 (22q13.31)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Ataxia patients
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
SCA10
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
28-21
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
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 1
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: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
Applied Biosystems 3130xl genetic analyser
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Target population: Help
Ataxia patients
View citations (2)
  • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Matsuura T, et al. Nat Genet. 2000;26(2):191-4. doi:10.1038/79911. PMID: 11017075.
  • The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Wakamiya M, et al. Neurology. 2006;67(4):607-13. doi:10.1212/01.wnl.0000231140.26253.eb. PMID: 16924013.
Recommended fields not provided:
Technical Information
Test Procedure: Help
FAM labelled PCR and Applied Biosystems 3031xl automated fragment analysis of the ATTCT pentanucleotide repeat expansion in intron 9 of the ataxin10 gene on chromosome 22q13. Normal range ATTCT repeat alleles range from 10 to 29 repeats. Pathological alleles contain 800 to over 4500 ATTCT repeats.
View citations (2)
  • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Matsuura T, et al. Nat Genet. 2000;26(2):191-4. doi:10.1038/79911. PMID: 11017075.
  • The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Wakamiya M, et al. Neurology. 2006;67(4):607-13. doi:10.1212/01.wnl.0000231140.26253.eb. PMID: 16924013.
Test Confirmation: Help
different method or new sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% precise
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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