• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit

Associated disorders

The FBN1 gene is associated with autosomal dominant Marfan syndrome (MedGen UID: 44287), MASS syndrome (MedGen UID: 346932), thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 468423), isolated ectopia lentis (MedGen UID: 342716), and stiff skin syndrome (MedGen UID: 348877). Other FBN1-related conditions have been reported (OMIM: 134797).

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Invitae tests that include this gene:

Pathogenic FBN1 variants are associated with 70%-93% of clinical cases of Marfan syndrome and are a rare cause of TAAD.

The FBN1 gene encodes fibrillin-1, a large, extracellular matrix glycoprotein, which is a major structural component of microfibrils. Microfibrils provide a scaffold for elastin deposition for the force-bearing structural support in connective tissue throughout the body.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
FBN1 NM_000138.4