Marfan syndrome : FBN1 Sequencing

Test Information

FBN1 sequencing is a molecular test used to identify variants in the gene associated with Marfan syndrome .

Turnaround Time

6 weeks

CPT Code(s)





Clinical Information

Marfan syndrome is an autosomal dominant, highly variable disorder of connective tissue. Features of Marfan syndrome can include: pectus excavatum, reduced upper-to-lower segment ratio, wrist/thumb signs, scoliosis, joint hypermobility, high arched palate, ectopia lentis, dilatation or dissection of the ascending aorta, mitral valve prolapse, pneumothorax, and striae atrophicae. Specific diagnostic criteria for a clinical diagnosis of Marfan syndrome have been described.


Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.


Sanger Sequencing


Sequencing of the FBN1 gene will detect mutations in approximately 70-93% of individuals with a clinical diagnosis of Marfan syndrome.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Sanger Sequencing
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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