Spinocerebellar Ataxia Type 1
GTR Test Accession: Help GTR000558487.5
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2023-08-02
Last annual review date for the lab: 2023-08-02 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Spinocerebellar ataxia type 1
Genes (1): Help
ATXN1 (6p22.3)
Molecular Genetics - Sequence analysis of select exons: Trinucleotide repeat by PCR or Southern Blot
patients and at risk persons worldwide
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
SCA1
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
Lab contact: 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
Please use the following link for ordering
http://www.ukgm.de/ugm_2/deu/ugi_hum/index.html
Order URL
Informed consent required: Help
Yes
Test strategy: Help
detection of repeat expansion
View citations (1)
  • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell. 1993;72(6):971-83. doi:10.1016/0092-8674(93)90585-e. PMID: 8458085.
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
No
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
Sequence analysis of select exons
Trinucleotide repeat by PCR or Southern Blot
Lab-specific test design
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Predictive
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)

Target population: Help
patients and at risk persons worldwide
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Procedure: Help
PCR amplification of the CAG repeat of ataxin 1
View citations (1)
  • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell. 1993;72(6):971-83. doi:10.1016/0092-8674(93)90585-e. PMID: 8458085.
Test Confirmation: Help
second sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
accuracy of test is +/- one CAG-repeat, supported by 1000 specimen
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

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

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