SCA Panel (SCA1, 2, 3, 6, 7) test
GTR Test Accession: Help GTR000508867.2
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 1; Azorean disease; Spinocerebellar ataxia 7; ...
Genes (5): Help
ATXN1 (6p22.3), ATXN2 (12q24.12), ATXN3 (14q32.12), ATXN7 (3p14.1), CACNA1A (19p13.13)
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
SCA1, 2, 3, 6, 7
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
28-15
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: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
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 (5)
  • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Kawaguchi Y, et al. Nat Genet. 1994;8(3):221-8. doi:10.1038/ng1194-221. PMID: 7874163.
  • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Orr HT, et al. Nat Genet. 1993;4(3):221-6. doi:10.1038/ng0793-221. PMID: 8358429.
  • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Pulst SM, et al. Nat Genet. 1996;14(3):269-76. doi:10.1038/ng1196-269. PMID: 8896555.
  • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Zhuchenko O, et al. Nat Genet. 1997;15(1):62-9. doi:10.1038/ng0197-62. PMID: 8988170.
  • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. David G, et al. Nat Genet. 1997;17(1):65-70. doi:10.1038/ng0997-65. PMID: 9288099.
Recommended fields not provided:
Technical Information
Test Procedure: Help
FAM labelled PCR and Applied Biosystems 3031xl automated fragment analysis of the CAG repeat expansion in [1] the coding region of the ataxin-1 gene (SCA1) on chromosome 6p23. In most populations, normal ataxin-1 CAG repeat alleles range from 6 to 38 copies. Pathological alleles contain 39 to 91 CAG repeats. … View more
View citations (5)
  • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Kawaguchi Y, et al. Nat Genet. 1994;8(3):221-8. doi:10.1038/ng1194-221. PMID: 7874163.
  • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Orr HT, et al. Nat Genet. 1993;4(3):221-6. doi:10.1038/ng0793-221. PMID: 8358429.
  • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Pulst SM, et al. Nat Genet. 1996;14(3):269-76. doi:10.1038/ng1196-269. PMID: 8896555.
  • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Zhuchenko O, et al. Nat Genet. 1997;15(1):62-9. doi:10.1038/ng0197-62. PMID: 8988170.
  • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. David G, et al. Nat Genet. 1997;17(1):65-70. doi:10.1038/ng0997-65. PMID: 9288099.
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: Not Applicable
Additional Information

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