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Ataxia Repeat Expansion Panel
Clinical Genetic Test
Help
offered by
Genetic Services Laboratory
GTR Test Accession: Help GTR000558499.7
CAP
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2021-10-27
View version history
Last annual review date for the lab: 2023-07-18 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring; Pre-symptomatic; ...
Conditions (13): Help
Spinocerebellar ataxia type 1; Azorean disease; Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome; ...
Genes (13): Help
ATN1 (12p13.31), ATXN1 (6p22.3), ATXN10 (22q13.31), ATXN2 (12q24.12), ATXN3 (14q32.12), ...
Methods (1): Help
Molecular Genetics - Mutation scanning of select exons: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Genetic Services Laboratory
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
•All samples should be shipped via overnight delivery at room temperature.
•No weekend or holiday deliveries.
•Label each specimen with the patient’s name, date of birth and date sample collected.
•Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Uniparental Disomy (UPD) Testing
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
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:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 13
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 13
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Mutation scanning of select exons
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring; Pre-symptomatic; Risk Assessment; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
NA

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Research:
Is research allowed on the sample after clinical testing is complete? Help
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Clinical validity, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Assay limitations: Help
Expansions larger than 100 repeats for all the repeats tested can be detected but may not be sized by this test. SCA10 fully penetrant alleles (>800) will not be differentiated from reduced penetrant alleles that are >100 repeats. For repeat sizes in the normal range the accuracy of the assay … View more
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
NA

Laboratory's policy on reporting novel variations Help
NA
Recommended fields not provided:
Test Confirmation, 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.