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Cherubism via the SH3BP2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8275 SH3BP2 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8275SH3BP281479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Yuan Xue, PhD

Clinical Features and Genetics

Clinical Features

Cherubism results in painless bilateral growths in the mandible and/or maxilla (Baskin et al. 2001). The fibrous cyst-like growths result in a swollen round facial appearance, which can interfere with normal tooth development causing premature loss of the primary teeth and uneruption of the permanent teeth. There is quite a range of phenotype appearance with affected individuals with mild features, and others where the growths interfere with vision, breathing, speech, and swallowing (Pérez-Sayáns et al. 2013). The growths usually begin between 2-7 years of age and progress through childhood and stabilize at puberty and then partial or total regression occurs (Kömerik et al. 2013). Cherubism does not affect intelligence and an affected individual is otherwise physically normal. At least 250 cases have been reported worldwide (Preda et al. 2010).

Genetics

Cherubism is a rare autosomal dominant disorder which shows variable expressivity with near complete penetrance in males and reduced penetrance in females (Baskin et al. 2001; Pérez-Sayáns et al. 2013). It is caused by pathogenic variants in the SH3BP2 gene, which encodes a protein that binds to SH3 domains of several proteins, such as protein tyrosine kinases, involved in maintenance of bone tissue and specific immune cells (Lietman et al. 2008). Most reported pathogenic variants cluster in one area of the gene, but other mutations have been reported outside of this region (Carvalho et al. 2009). Reported causative mutations are mostly missense variants, but a small deletion has also been reported that caused an aggressive form of Cherubism (Carvalho et al. 2008).

Clinical Sensitivity - Sequencing with CNV PGxome

Mutations in the SH3BP2 gene can be identified in at least 80% of individuals affected with Cherubism (Baskin et al. 2001).

Testing Strategy

This test provides full coverage of all coding exons of the SH3BP2 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Individuals with a clinical presentation of Cherubism and individuals with a family history.

Gene

Official Gene Symbol OMIM ID
SH3BP2 602104
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Cherubism AD 118400

Citations

  • Baskin B, Bowdin S, Ray PN. 2001. Cherubism. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301316
  • Carvalho V, Perdigão P, Amaral F, Souza P de, Marco L De, Gomez R. 2009. Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. Oral Diseases 15: 106–110. PubMed ID: 19017279
  • Carvalho VM, Perdigão PF, Pimenta FJ, Souza PEA de, Gomez RS, Marco L De. 2008. A novel mutation of the SH3BP2 gene in an aggressive case of cherubism. Oral Oncology 44: 153–155. PubMed ID: 17368082
  • Kömerik N, Ta? B, Önal L. 2013. Cherubism. Head and Neck Pathology. PubMed ID: 24037598
  • Lietman SA, Yin L, Levine MA. 2008. SH3BP2 is an activator of NFAT activity and osteoclastogenesis. Biochemical and Biophysical Research Communications 371: 644–648. PubMed ID: 18440306
  • Pérez-Sayáns M, Barros-Angueira F, Suárez-Peñaranda JM, García-García A. 2013. Variable expressivity familial cherubism: woman transmitting cherubism without suffering the. PubMed ID: 24382142
  • Preda L, Dinca O, Bucur A, Dragomir C, Severin E. 2010. Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter – Case Report. Molecular Syndromology 1: 87–90. PubMed ID: 21045962

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

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View Ordering Instructions

1) Select Test Method (Platform)


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.
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