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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 3057 | FBN1 | 81408 | 81408,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks 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.
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.
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 |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Ectopia Lentis, Isolated, Autosomal Dominant | AD | 129600 |
| Geleophysic Dysplasia 2 | AD | 614185 |
| Marfan Syndrome | AD | 154700 |
| Stiff Skin Syndrome | AD | 184900 |
| Weill-Marchesani Syndrome 2 | AD | 608328 |
Related Tests
| Name |
|---|
| Comprehensive Cardiology Panel |
| Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel |
| Sudden Cardiac Arrest Panel |
Citations
- Ades et.al. 2004. PubMed ID: 15054843
- Baetens et al. 2011. PubMed ID: 21542060
- Baudhuin et al. 2015. PubMed ID: 25652356
- Collod-Béroud et al. 2003. PubMed ID: 12938084
- Comeglio et al. 2007. PubMed ID: 17657824
- De Paepe et al. 1996. PubMed ID: 8723076
- Dietz et.al. 1991. PubMed ID: 1852208
- Dietz. 2017. PubMed ID: 20301510
- Faivre et.al. 2003. PubMed ID: 12525539
- Groth et al. 2017. PubMed ID: 27906200
- Le Goff et al. 2011. PubMed ID: 21683322
- Loeys et al. 2005. PubMed ID: 15731757
- Loeys et al. 2010. PubMed ID: 20591885
- Loeys et.al. 2010. PubMed ID: 20375004
- Mátyás et al. 2007. PubMed ID: 17492313
- Neptune 2003. PubMed ID: 12598898
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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