GTR Test Accession:
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GTR000558499.8
CAP
Last updated in GTR:
2024-07-22
View version history
GTR000558499.8,
last updated:
2024-07-22
GTR000558499.7,
last updated:
2021-10-27
GTR000558499.6,
last updated:
2021-10-27
GTR000558499.5,
last updated:
2021-01-20
GTR000558499.4,
last updated:
2019-08-13
GTR000558499.3,
last updated:
2019-07-26
GTR000558499.2,
last updated:
2018-09-18
GTR000558499.1,
registered in GTR:
2018-08-20
Last annual review date for the lab: 2024-07-22
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At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Pre-symptomatic; ...
Conditions (14):
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Spinocerebellar ataxia type 1;
Azorean disease;
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
more...
Genes (14):
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Methods (1):
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Molecular Genetics - Mutation scanning of select exons: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- 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
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Contact Policy:
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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:
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•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
•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:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Uniparental Disomy (UPD) Testing
Confirmation of research findings
Custom Deletion/Duplication Testing
Uniparental Disomy (UPD) Testing
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 14
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 14
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Mutation scanning of select exons
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Formate assay in body fluids: application in methanol poisoning. Makar AB, et al. Biochem Med. 1975;13(2):117-26. doi:10.1016/0006-2944(75)90147-7. PMID: 1. Mariotti C, Fancellu R, Di Donato S. An overview of the patient with ataxia. J Neurol 2005: 252: 511-518. 2. Németh AH, Kwasniewska AC, Lise S et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 2013. 3. Brusse E, Maat-Kievit JA, van Swieten JC. Diagnosis and management of early- and late-onset cerebellar ataxia. Clin Genet 2007: 71: 12-24. 4. Warner JP, Barron LH, Goudie D et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996: 33: 1022-1026..
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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NA
NA
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Research:
Is research allowed on the sample after clinical testing is complete?
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http://dnatesting.uchicago.edu/research-consent-form
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-100%
Accuracy 100%
Precision 100%
Assay limitations:
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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 …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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
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NA
Laboratory's policy on reporting novel variations Help
NA
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:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
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.