LIS1-Associated Lissencephaly/Subcortical Band Heterotopia
- 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.: GTR000562531.3
- Last updated: 2021-10-14
- 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 Lissencephaly due to LIS1 mutation
Offered by Warren G. Sanger Human Genetics Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.LIS1-Associated Lissencephaly/Subcortical Band Heterotopia (Miller-Dieker Syndrome)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Recurrence
Click Indication tab for more information.
The requisition is found at www.reglab.org, select client services and then requisitions. Please fully complete the required information. We are able to receive specimens from 8:00am-5:00pm (CST) seven days a week. Specimen requirements can be found under the test directory (www.reglab.org). Feel free to call the lab at 402-559-6420 for further 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.reglab.org/services/human-genetics/
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.- Cytogenetics
- IFISH-interphase
- Fluorescence in situ hybridization
- MFISH-metaphase
- Fluorescence in situ hybridization
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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