Congenital Fibrosis of Extraocular Muscles Type
- 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.: GTR000322836.5
- Last updated: 2024-05-10
- Test version history
Research 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 Congenital fibrosis of extraocular muscles
Offered by Engle Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Congenital Fibrosis of Extraocular Muscles Type (CFEOM)
Purpose of the test
HelpIf the test is being performed for the purpose of contributing to generalizable knowledge, then in general, the intent is to publish the study results and a research ethics committee (e.g., IRB) will have reviewed the study protocol. If the test being performed so the lab can generate data to make technical improvements to a test, there may not be a protocol available for review.Contribute to generalizable knowledge
Click Condition tab for more information.
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
- LLinkage analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Other
- Illumina Infinium HD HumanCytoSNP-12
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Other
- Illumina Infinium HD HumanCytoSNP-12
Researchers
| Person responsible for the studyHelpName of the principal investigator or lab director who is ultimately responsible for the conduct of the research. | Elizabeth Engle, MD, ABPN, FAAN, Lab Director |
|---|---|
| Study contactHelpThe person designated as the point of contact to answer questions about the study and coordinate enrollment. | Elizabeth Engle, MD, ABPN, FAAN, Lab Director, elizabeth.engle@childrens.harvard.edu, 617-919-4030 (phone), 617-919-4834 (fax) |
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