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Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7)
Clinical Genetic Test
Help
offered by
Center for Genetics at Saint Francis
View lab's test page
LinkOut
GTR Test Accession: Help GTR000529286.4
CAP
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2024-07-26
View version history
Last annual review date for the lab: 2024-07-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic
Conditions (5): Help
Hereditary ataxia; Spinocerebellar ataxia 7; Spinocerebellar ataxia type 1 more...
Genes (5): Help
ATXN1 (6p22.3); ATXN2 (12q24.12); ATXN3 (14q32.12); ATXN7 (3p14.1); CACNA1A (19p13.13)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Not provided
Clinical validity: Help
Clinical Sensitivity is 99%. Over 95% of ataxia conditions (by …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Test short name: Help
SCA Panel
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
N/A
View other test codes
LOINC codes: Help
**LOINC codes notice
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Staff
lhwhetsell@saintfrancis.com
918-502-3808
Tonya Jones, BS, CG(ASCP), MB(ASCP), Administrator
tsjones@saintfrancis.com
918-502-1730
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Obtain specific specimen information from website. Submit a test requisition form with billing information when submitting a specimen for testing.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test strategy
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 3130 Capillary Sequencing Instrument
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Clinical validity: Help
Clinical Sensitivity is 99%. Over 95% of ataxia conditions (by incidence) are encompassed by this panel.
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Perlman S. Hereditary Ataxia Overview. 1998 Oct 28 [updated 2024 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301317.
  • https://www.ncbi.nlm.nih.gov/books/NBK1138

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No. N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. N/A
Recommended fields not provided:
Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Extract new sample and duplicate method
Test Confirmation: Help
Extract new sample and duplicate method
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99 percent
Assay limitations: Help
This testing examines the trinucleotide repeat regions, exclusively. However, no other mechanism has been described for these conditions and the testing is considered diagnostic. Rare diagnostic errors can occur due to primer or probe site mutations or rare polymorphisms.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Citations to support 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: Help
Category: FDA exercises enforcement discretion
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.