FBN1 Full Gene 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.: GTR000603730.3
- Last updated: 2024-04-08
- 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 Mayo Clinic Laboratories
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.FBN1 Full Gene Analysis (MFBNG)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
https://www.mayocliniclabs.com/test-catalog/Overview/617365#Specimen
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.mayocliniclabs.com/order-tests/index.html
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
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NovaSeq 6000
- Other
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NovaSeq 6000
- Other
Establish or confirm diagnosis
- Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. - PubMed ID: 17701892
- FBN1-Related Marfan Syndrome. - PubMed ID: 20301510
- The revised Ghent nosology for the Marfan syndrome. - PubMed ID: 20591885
- Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. - PubMed ID: 25101912
- Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. - PubMed ID: 25652356
- OMIM. 134797 Fibrillin 1; FBN1. Johns Hopkins University; 1991. Updated November 12, 2020. Accessed August 1, 2022. Available at https://omim.org/entry/134797
- https://www.ncbi.nlm.nih.gov/books/NBK1335
Predictive risk information for patient and/or family members
- Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. - PubMed ID: 17701892
- FBN1-Related Marfan Syndrome. - PubMed ID: 20301510
- The revised Ghent nosology for the Marfan syndrome. - PubMed ID: 20591885
- Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. - PubMed ID: 25101912
- Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. - PubMed ID: 25652356
- OMIM. 134797 Fibrillin 1; FBN1. Johns Hopkins University; 1991. Updated November 12, 2020. Accessed August 1, 2022. Available at https://omim.org/entry/134797
- https://www.ncbi.nlm.nih.gov/books/NBK1335
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.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]
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.