Marfan Syndrome (FBN1) Sequencing

Disorder Marfan syndrome
Gene Name FBN1
Clinical info 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.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Detection 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 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is 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.
CPT Codes Unknown mutation: 81408

Known mutation: 81403

Deletion/Duplication Analysis: 81229
Cost $2000 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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