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
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.FBN1 sequencing and deletion/duplication analysis (FBN1)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Screening
Click Indication tab for more information.
Using our website
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://agdx.portal.cartagenia.com/catalog/list.htm
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.- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.Simultaneous bi-directional sequencing of all coding exons and MLPA 000 Using our website
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Confirmation of research findings
- Custom Sequence Analysis
- Custom Prenatal Testing
- Custom mutation-specific/Carrier testing
- 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]
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.