|FBN1 Gene Sequencing||
Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
|4 mL||4 mL- 8mL|
Room temperature - 24 hour(s)
- Do not freeze
- Do not centrifuge
Reasons for Rejection
- Centrifuged specimen
- Frozen specimen
- Wrong collection tube
- Clotted specimen
- Delayed or improper handling
Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required.
This test is a full gene sequencing analysis of the FBN1 gene. Presence of a pathogenic variant (mutation) in the FBN1 gene is associated with Marfan syndrome.
Marfan syndrome is an autosomal dominant, multisystem connective disorder with primary involvement of the ocular, skeletal and cardiovascular systems. The cardinal manifestations of Marfan include myopia, with the hallmark feature of ectopia lentis in 60% of affected persons, skeletal overgrowth with dolichostenomelia and pectus deformity accompanied by joint laxity, and cardiovascular involvement including dilatation of the aorta. In addition to Marfan syndrome, mutations in FBN1 are also associated with the following phenotypes: acromicric dysplasia, familial isolated ectopia lentis, geleophysic dysplasia 2, MASS (mitral valve, aorta, skeleton, skin) syndrome, stiff-skin syndrome, thoracic aortic aneurysms and aortic dissections, and Weill-Marchesani syndrome 2.
Targeted mutation analysis for this gene is available for other family members when familial mutation is known (see test code FMLIS).