FBN1 sequencing and deletion/duplication analysis
- 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.: GTR000500433.4
- Last updated: 2021-01-11
- Annual Review past due read more
- 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 Amsterdam UMC Genome Diagnostics
- 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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