Marfan Syndrome via the FBN1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3057 FBN1 81408 81408,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3057FBN181408 81408(x1), 81479(x1) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Marfan syndrome (MFS) is a connective tissue disorder that affects multiple organ systems with a high degree of clinical variability. Diagnosis of MFS is based on Ghent nosology (Loeys et al. 2010. PubMed ID: 20591885). The eye, skeletal and cardiovascular systems are affected. Myopia, ectopia lentis, joint laxity, pectus excavatum or pectus carinatum, scoliosis, and bone overgrowth are common features (Dietz. 2017. PubMed ID: 20301510). Thoracic aortic aneurysm and dissection (TAAD) can lead to morbidity and early mortality (De Paepe et al. 1996. PubMed ID: 8723076). TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta using imaging studies. Some clinical features of MFS overlap with Loyes-Dietz syndrome, Lujan syndrome, homocystinuria, Snyder-Robinson syndrome, congenital contractural arachnodactyly, Ehlers-Danlos syndrome (vascular type, classic type, and kyphoscoliosis form), and isolated ectopia lentis.

Genetics

MFS is inherited in an autosomal dominant manner. Approximately 75 -95% of individuals with a diagnosis of MFS have an affected parent and ~25% of variants arise de novo (Dietz. 2017. PubMed ID: 20301510). FBN1 pathogenic variants have been identified in 70-95% of patients with a clinical diagnosis of Marfan syndrome based on the Ghent nosology (Dietz. 2017. PubMed ID: 20301510; Mátyás et al. 2007. PubMed ID: 17492313; Baetens et al. 2011. PubMed ID: 21542060; Collod-Béroud et al. 2003. PubMed ID: 12938084; Baudhuin et al. 2015. PubMed ID: 25652356). FBN1 is also associated with isolated ectopia lentis, geleophysic dysplasia 2, stiff skin syndrome, and Weill-Marchesani syndrome 2 (Ades et al. 2004 PubMed ID: 15054843; Comeglio et al. 2007. PubMed ID: 17657824; Le Goff et al. 2011. PubMed ID: 21683322; Loeys et al. 2010. PubMed ID: 20375004; Faivre et al. 2003. PubMed ID:12525539).

The FBN1 gene encodes the Fibrillin-1 protein, an extracellular matrix protein that contributes to the microfibrils of elastic and nonelastic tissues. Microfibrils participate in the formation and homeostasis of the elastic matrix, in matrix-cell attachments, and possibly in the regulation of selected growth factors such as TGFβ (Neptune et al. 2003. PubMed ID: 12598898; Loeys et al. 2005. PubMed ID: 15731757). A mix of nonsense, frameshift, splicing, deletion, insertion and missense pathogenic variants have been reported in the FBN1 gene; none are particularly frequent (Dietz et al. 1991. PubMed ID: 1852208; Collod-Béroud et al. 2003. PubMed ID: 12938084; Baudhuin et al. 2015. PubMed ID: 25652356; Groth et al. 2017. PubMed ID: 27906200).

Clinical Sensitivity - Sequencing with CNV PG-Select

FBN1 pathogenic variants have been identified in 70-95% of patients with a clinical diagnosis of Marfan syndrome based on the Ghent nosology (Dietz 2017. PubMed ID: 20301510; Mátyás et al. 2007. PubMed ID: 17492313; Baetens et al. 2011. PubMed ID: 21542060; Collod-Béroud et al. 2003. PubMed ID: 12938084; Baudhuin et al. 2015. PubMed ID: 25652356).

Testing Strategy

This test provides full coverage of all coding exons of the FBN1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with Marfan syndrome and family members of patients who have known FBN1 pathogenic variants.

Gene

Official Gene Symbol OMIM ID
FBN1 134797
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
Comprehensive Cardiology Panel
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel
Sudden Cardiac Arrest Panel

Citations

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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