Marfan Syndrome (MFS): FBN1 (Full Gene Sequencing)

CPT: 81408
Print Share

Test Details

Test Includes

This test covers all coding nucleotides of gene FBN1, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Use

Confirm a clinical diagnosis of MFS; identify presymptomatic family members, guiding prophylactic measures

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

DNA sequencing

Reference Interval

Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

Additional Information

Marfan syndrome (MFS) is a dominantly inherited systemic connective tissue disorder characterized by multiple variable abnormalities of the skeletal, ocular, cardiovascular, pulmonary, skin, and nervous systems. Morbidity and mortality are mostly due to aortic dilation, which can lead to aortic rupture and/or dissection. At least 90% of MFS are associated with mutations in FBN1. Genetic testing can confirm a clinical diagnosis of MFS, help to establish a diagnosis in patients with only partially fulfilled clinical criteria, and allow for accurate identification of presymptomatic mutation carriers within affected families.

Specimen Requirements

Specimen

Whole blood; DNA is accepted (Call 866-647-0735 for DNA collection information.)

Volume

2 mL

Container

Lavender-top (EDTA) tube

Collection

Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Container broken or leaking; container not labeled or label not legible

Clinical Information

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252654.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

References

Comeglio P, Johnson P, Arno G, et al. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: Report of 193 FBN1 mutations. Human Mutation. 2007 Sep; 28(9):928. 17657824
Dietz HC. Marfan syndrome. GeneReviews. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=marfan. Accessed February 06, 2010.
Faivre L, Collod-Beroud G, Loeys BL, et al. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: An international study of 1009 probands. J Med Genet. 2008 Jun; 45(6):384-390. 18310266

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252406 Marfan Syndrome: FBN1 252060 Routing 40471-5
252406 Marfan Syndrome: FBN1 252408 Marfan Syndrome: FBN1 N/A

For Providers

Please login to order a test.

 

© 2017  Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf