Marfan Syndrome and MFS Related Disorders Panel
- 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.: GTR000500927.3
- 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 Marfan syndrome
Offered by Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
Methodology
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
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Test comments
HelpAdditional details about the test. E.g., 'Bi-directional sequencing of exons 1-5 with concurrent analysis of Glu234Gly'.Exome-based test
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.Not provided
- Loeys et al., 2010The revised Ghent nosology for the Marfan syndrome.
- Orphanet, 2007Orphanet, Marfan Syndrome, 2007
- EuroGenetest, 2010Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
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