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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 GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3151 FBN2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3151FBN281479 81479,81479 $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

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.

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 Cardiology Panel
Distal Arthrogryposis Panel
Sudden Cardiac Arrest 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


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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