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MARFAN SYNDROME: FBN1
Message"In cases in which there is a known mutation that can be documented, the physician may prefer to order test 252654.
For all Correlagen tests, specimens must be accompanied by a completed consent form. In the case of family tests (ie, known mutations), Correlagen requires the result report of the first patient tested in the family (the index case), if not performed at Correlagen. Other family members are subsequently tested for the specific mutation found in the first patient tested
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For all Correlagen tests, specimens must be accompanied by a completed consent form. In the case of family tests (ie, known mutations), Correlagen requires the result report of the first patient tested in the family (the index case), if not performed at Correlagen. Other family members are subsequently tested for the specific mutation found in the first patient tested
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Test Code
252406
CPT Codes
81408
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 n
Preferred Specimen
"Whole blood; DNA is accepted (Call Correlagen at 781-647-0604 for DNA collection information.)
2 mL
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2 mL
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Minimum Volume
2ml
Instructions
"Samples may be stored for brief periods at 4°C. Ship overnight at room temperature
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Transport Container
"Lavender-top (EDTA) tube
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Transport Temperature
Room temp
Specimen Stability
"Maintain specimen at room temperature
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
"Container broken or leaking; container not labeled or label not legible
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Methodology
DNA sequencing
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.
Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.
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Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.
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Reference Range
"Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.
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Clinical Significance
"Confirm a clinical diagnosis of MFS; identify presymptomatic family members, guiding prophylactic measures
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.
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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.
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