Spinocerebellar Ataxia Type 1
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000558487.5
- Last updated: 2023-08-02
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Spinocerebellar ataxia type 1
Offered by Institute of Human Genetics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Spinocerebellar Ataxia Type 1 (SCA1)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Predictive
Click Indication tab for more information.
Please use the following link for ordering
http://www.ukgm.de/ugm_2/deu/ugi_hum/index.html
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://www.ukgm.de/ugm_2/deu/ugi_hum/12875.html
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- ESequence analysis of select exons
- Trinucleotide repeat by PCR or Southern Blot
- Lab-specific test design
Establish or confirm diagnosis
- Hereditary Ataxia Overview - PubMed ID: 20301317
- https://www.ncbi.nlm.nih.gov/books/NBK1138
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.detection of repeat expansion 000 Please use the following link for ordering http://www.ukgm.de/ugm_2/deu/ugi_hum/index.html
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.