Joubert syndrome 17 / Orofaciodigital syndrome VI (deleções / duplicações no gene CPLANE1)
- 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.: GTR000596048.1
- Last updated: 2022-10-04
- Test version history
- 596048.1, last updated: 2022-10-04
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 Joubert syndrome 17
Offered by Unilabs Genetics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Joubert syndrome 17 / Orofaciodigital syndrome VI (deleções / duplicações no gene CPLANE1)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
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.: https://www.cgcgenetics.com/en/analysis/test-requisitions/
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
- DDeletion/duplication analysis
- Quantitative PCR (qPCR)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
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