Spinocerebellar ataxia type 1
GTR Test Accession: Help GTR000026317.2
CAP
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2023-09-25
Last annual review date for the lab: 2023-09-25 LinkOut
At a Glance
Diagnosis; Pre-symptomatic
Spinocerebellar ataxia type 1
Genes (1): Help
ATXN1 (6p22.3)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Genetic testing for the SCA panel is typically restricted to …
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Lab contact: Help
Claudia Carriles, MS, Certified Genetic counselor, CGC, Genetic Counselor
ccarriles@sharedhealthmb.ca
204-787-4033
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
4 mL EDTA whole blood; shipped at room temperature.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
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
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Target population: Help
Genetic testing for the SCA panel is typically restricted to neurologists and medical geneticists. Typically the patient meets one of the following criteria: 1) Patient diagnosed with cerebellar ataxia and has a family history suggesting an autosomal dominant pattern of inheritance. or 2) Patient diagnosed with cerebellar ataxia (negative family … View more
Recommended fields not provided:
Technical Information
Test Comments: Help
SCA panel available, Single SCA gene analysis only when positive family history is known.
This clinical service test is available to Canadian residents only
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy (54/54) = 100%; Specificity (40/40) = 100%; Sensitivity (14/14) = 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

Description of PT method: Help
Formal PT program (CAP) once per year. Informal interlaboratory exchange program once per year.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. 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.