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HelpTest Code MFBNG FBN1 Full Gene Sequencing with Deletion/Duplication, Varies
Ordering Guidance
This is a single gene test for the FBN1 gene. The FBN1 gene is also included on multi-gene panels. If testing for multiple overlapping clinical presentations is desired, see MFRGG Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies or CAORG / Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies.
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information
3. FBN1 Full Gene Analysis (MFBNG) Prior Authorization Ordering Instructions
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions
Establishing a diagnosis for Marfan syndrome and other FBN1-related conditions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
FBN1 Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(7) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1 Dietz H: FBN1-related Marfan syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2001. Updated February 17, 2022. Accessed August 1, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1335/
2. Loeys BL, Dietz HC, Braverman AC, et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-485
3. OMIM. 134797 Fibrillin 1; FBN1. Johns Hopkins University; 1991. Updated November 12, 2020. Accessed August 1, 2022. Available at https://omim.org/entry/134797
4. Baudhuin LM, Kotzer KE, Lagerstedt SA: Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. Genet Med. 2015 Mar;17(3):177-187. doi: 10.1038/gim.2014.91
5. Baudhuin LM, Kotzer KE, Lagerstedt SA: Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. J Hum Genet. 2015 May;60(5):241-252. doi: 10.1038/jhg.2015.10
6. Faivre L, Collod-Beroud G, Loeys BL, et al: Effect of mutation type and location on clinical outcome of 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007;81(3):454-466. doi: 10.1086/520125
7. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424.
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81408
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MFBNG | FBN1 Full Gene Analysis | 77114-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617366 | Test Description | 62364-5 |
| 617367 | Specimen | 31208-2 |
| 617368 | Source | 31208-2 |
| 617369 | Result Summary | 50397-9 |
| 617370 | Result | 82939-0 |
| 617371 | Interpretation | 69047-9 |
| 617372 | Additional Results | 82939-0 |
| 617373 | Resources | 99622-3 |
| 617374 | Additional Information | 48767-8 |
| 617375 | Method | 85069-3 |
| 617376 | Genes Analyzed | 48018-6 |
| 617377 | Disclaimer | 62364-5 |
| 617378 | Released By | 18771-6 |