Huntington Disease (HD) Mutation by PCR
- 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.: GTR000500422.3
- Last updated: 2023-07-31
- 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 Huntington disease
Offered by ARUP Laboratories, Molecular Genetics and Genomics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Huntington Disease (HD) Mutation by PCR (HD)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic
Click Indication tab for more information.
Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Specimen Preparation: Transport 5 mL whole blood. (Min: 3 mL)
Storage/Transport Temperature: Refrigerated.
Remarks: A completed HD specific consent form, signed by the patient (or legal guardian) and physician, is required for all specimens. Testing for patients under the age of 18 years or fetal specimens is not offered. Presymptomatic patients are strongly encouraged to go through a counseling program approved by the Huntington Disease Society of America at (800) 345-4372. Call Genetics Processing with additional questions at 800-242-2787 ext 3301.
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.aruplab.com/genetics/ordering
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
- TTargeted variant analysis
- Chimeric PCR followed by size analysis using capillary electrophoresis.
Not provided
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.If an expanded allele is detected by PCR and capillary electrophoresis, but cannot be sized (typically due to large expansions greater than 80 repeats), Southern blot will be added to determine the size of the expanded CAG repeat. 000 Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). Specimen Preparation: Transport 5 mL whole blood. (Min: 3 mL) Storage/Transport Temperature: Refrigerated. Remarks: A completed HD specific consent form, signed by the patient (or legal guardian) and physician, is required for all specimens. Testing for patients under the age of 18 years or fetal specimens is not offered. Presymptomatic patients are strongly encouraged to go through a counseling program approved by the Huntington Disease Society of America at (800) 345-4372. Call Genetics Processing with additional questions at 800-242-2787 ext 3301.
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