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This test covers all coding nucleotides of the FBN1 gene plus at least two and typically 10 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 10 flanking nucleotides in the 5′ and 3′ UTR.
Confirm a clinical diagnosis of MFS; identify presymptomatic family members, guiding prophylactic measures
This analysis does not rule out germline mosaicism, the presence of large chromosomal aberrations (including deletions, insertions, and rearrangments), mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous representation of family relationships.
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).
Mutation analysis is performed using the Agilent Sure Select XT® enrichment method and the Illumina® next-generation sequencing platform. Regions of interest include all exons and splice junctions for each gene. Sequencing reads are aligned with the hg19 build of the human genome reference sequence. Analytical sensitivity is based on the depth of coverage across regions of interest and is provided separately for each gene. Greater than 98% of target bases are synonymous variants not previously recorded at greater than or equal to 20x coverage. Sanger sequencing is used to confirm mutation identity and analyze regions with low coverage. Variants are reported using numbering and nomenclature recommended by the Human Genome Variation Society (HGVS: http://hgvs.org/). Variants known to be benign and synonymous variants not previously recorded in our internal variant databases are not reported.
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.
10 mL whole blood or 30 mL if ordering multiple tests
Maintain specimen at room temperature. Specimen can be stored for brief periods at 4°C.
Causes for Rejection
Frozen specimen; container broken or leaking; container not labeled or label not legible; improper anticoagulant
For all tests, specimens must be accompanied by a completed consent form. See sample physician office consent form: Consent for Genetic Testing in Related Documents. In cases in which a known mutation can be documented, the physician may prefer to order Test 451382, Mutation-specific Sequencing, Whole Blood (link in Related Information). Please call customer service at 866-647-0735 before submitting specimens for family testing (ie, known mutations).
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|452028||FBN1: Marfan Syndrome||452029||Specimen Type||31208-2|
|452028||FBN1: Marfan Syndrome||452030||Results:||77114-7|
|452028||FBN1: Marfan Syndrome||452031||Key Findings||53037-8|
|452028||FBN1: Marfan Syndrome||452032||Additional Information||49549-9|
|452028||FBN1: Marfan Syndrome||452033||Gene Information||51968-6|
|452028||FBN1: Marfan Syndrome||452034||Tech Spec Results||51958-7|
|452028||FBN1: Marfan Syndrome||452035||Seq Variants Detected||69548-6|
|452028||FBN1: Marfan Syndrome||452036||Disclaimer||62364-5|
|452028||FBN1: Marfan Syndrome||452037||Director Review:||48672-0|
|452028||FBN1: Marfan Syndrome||452038||51969-4|