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Marfan Syndrome (MFS): FBN1 (Full Gene Sequencing)
Confirm a clinical diagnosis of MFS; identify presymptomatic family members, guiding prophylactic measures
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).
Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.
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.
Whole blood; DNA is accepted (Call 866-647-0735 for DNA collection information.)
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Causes for Rejection
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.
|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|