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  • Test code: 02312
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Marfan Syndrome Test

Test description

This test is for individuals with a clinical diagnosis of Marfan syndrome. The Invitae Marfan Syndrome Test analyzes a single gene, FBN1, which has been definitively associated with this syndrome.

Individuals with clinical symptoms of Marfan syndrome may benefit from diagnostic genetic testing to better understand risks, confirm a diagnosis, or inform management. Asymptomatic individuals within a family with a known FBN1 pathogenic variant may also benefit, as testing may clarify their own personal risk of developing Marfan syndrome or other FBN1-related disorders and inform medical management.

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Primary panel (1 gene)

Alternative tests to consider

The clinical features of Marfan syndrome can overlap with other inherited aortopathies, including Loeys-Dietz syndrome and thoracic aortic aneurysms and dissections. The FBN1 gene is also included as part of a targeted panel to test for aortopathy disorders, called the Invitae Aortopathy Comprehensive Panel. Depending on the individual’s clinical and family history, the Invitae Aortopathy Comprehensive Panel may be appropriate. This panel can be ordered at no additional charge.

There can be significant overlap between connective tissue disorders. Connective tissue disorders are often multi-systemic, involving the bones, joints, blood vessels, skin, eyes, and other organs. The Invitae Connective Tissue Disorders Panel analyzes genes that are associated with inherited disorders of connective tissue, including but not limited to Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, thoracic aortic aneurysm and dissection, cutis laxa, Stickler syndrome, fibrodysplasia ossificans progressiva, and osteogenesis imperfecta. The Invitae Connective Tissue Disorders Panel cannot be combined with other Cardiology panels either at initial order or re-requisition at this time.

  • Marfan syndrome

To view the complete clinical description of this panel, click here.

Marfan syndrome is inherited in an autosomal dominant pattern. However, approximately 25% of individuals with Marfan syndrome have a de novo pathogenic variant in FBN1.

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

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