Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 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 | |
|---|---|---|---|---|---|
| 3151 | FBN2 | 81479 | 81479,81479 | $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
Congenital Contractural Arachnodactyly (CCA), also known as Beals syndrome, is characterized by a tall, slender habitus in which arm span exceeds height, and arachnodactyly (Hecht and Beals. 1972. PubMed ID: 4552107; Putnam et al. 1995. PubMed ID: 7493032; Wang et al. 1996. PubMed ID: 8900230). Classical CCA patients are diagnosed by a constellation of clinical findings that include the Marfanoid habitus such as flexion contractures of multiple joints including elbows, knees, ankles, hips, fingers and toes; kyphosis/scoliosis, muscular hypoplasia and abnormal pinnae (Wang et al. 1996. PubMed ID: 8900230; Snape et al. 2006. PubMed ID: 16531736; Callewaert et al. 2009. PubMed ID: 19006240; Buchan et al. 2014. PubMed ID: 24833718; Godfrey. 2012. PubMed ID: 20301560). Infants with severe/lethal CCA have cardiovascular and gastrointestinal anomalies. Cardiovascular anomalies include atrial or ventricular septal defect, interrupted aortic arch, single umbilical artery, and rarely aortic root dilatation. Gastrointestinal anomalies include duodenal or esophageal atresia and intestinal malrotation (Wang et al. 1996. PubMed ID: 8900230; Snape et al. 2006. PubMed ID: 16531736).
Genetics
CCA is inherited in an autosomal dominant manner due to pathogenic variants in in the FBN2 (Putnam et al. 1995. PubMed ID: 7493032; Wang et al. 1996. PubMed ID: 8900230; Callewaert et al. 2009. PubMed ID: 19006240). Many individuals with CCA have an affected parent, but de novo variants have been reported (Callewaert et al. 2009. PubMed ID: 19006240). FBN2 encodes the Fibrillin-2 protein, an extracellular matrix protein that has a calcium-binding EGF-like motif and a TGF binding protein-like motif (Putnam et al. 1995. PubMed ID: 7493032; Wang et al. 1996. PubMed ID: 8900230). A mix of nonsense, splicing, deletion, insertion, duplication and missense pathogenic variants have been reported in the FBN2 gene (Putnam et al. 1995. PubMed ID: 7493032; Wang et al. 1996. PubMed ID: 8900230; Callewaert et al. 2009. PubMed ID: 19006240; Park et al. 1998. PubMed ID: 9714438; Gupta et al. 2002. PubMed ID: 11754102). The majority of CCA pathogenic variants in FBN2 substitute a cysteine residue to another amino acid and reside in the 13th to 23rd calcium binding-epidermal growth factor (cbEGF) like domains (Callewaert et al. 2009. PubMed ID: 19006240). Somatic mosaicism for an FBN2 pathogenic variant has been reported in one case (Putnam et al. 1997. PubMed ID: 9106527).
Clinical Sensitivity - Sequencing with CNV PG-Select
FBN2 pathogenic variants have been identified in up to 75% of individuals diagnosed with Congenital Contractural Arachnodactyly (Gupta et al. 2002. PubMed ID: 11754102; Callewaert et al. 2009. PubMed ID: 19006240).
Testing Strategy
This test provides full coverage of all coding exons of the FBN2 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 CCA and family members of patients who have known FBN2 pathogenic variants.
Candidates for this test are patients with symptoms consistent with CCA and family members of patients who have known FBN2 pathogenic variants.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| FBN2 | 612570 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Congenital Contractural Arachnodactyly | AD | 121050 |
Related Tests
| Name |
|---|
| Comprehensive Arrhythmia and Cardiomyopathy Panel |
| Distal Arthrogryposis Panel |
Citations
- Buchan et al. 2014. PubMed ID: 24833718
- Callewaert et al. 2009. PubMed ID: 19006240
- Godfrey. 2012. PubMed ID: 20301560
- Gupta et al. 2002. PubMed ID: 11754102
- Hecht and Beals. 1972. PubMed ID: 4552107
- Park et al. 1998. PubMed ID: 9714438
- Putnam et al. 1995. PubMed ID: 7493032
- Putnam et al. 1997. PubMed ID: 9106527
- Snape. et al. 2006. PubMed ID: 16531736
- Wang. et al. 1996. PubMed ID: 8900230
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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2) Select Additional Test Options
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