Oligodontia-Colorectal Cancer via the AXIN2 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
8307 AXIN2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8307AXIN281479 81479(x2) $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

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

Oligodontia is a congenital condition in which six or more permanent teeth fail to develop (Matalova et al. J Dent Res 87:617-623, 2008; Coster et al. J Oral Pathol Med 38:1-17, 2009). Often, oligodontia is included as a symptom of a syndromic genetic disorder, as in the case of Charcot-Marie-Tooth or cleft lip/palate syndromes. However, oligodontia can also occur as an isolated condition (i.e. non-syndromic) without any other readily apparent symptoms. Several genes are known to be involved in oligodontia and tooth agenesis, including MSX1, PAX9, and AXIN2 (Nieminen et al. Eur J Hum Genet 9:743-746, 2001; Nieminen et al. J Dent Res 82:1013-1017, 2003; Mostowska et al. J Hum Genet 51:262-266, 2006). Importantly, variants in AXIN2 were also found to segregate with colorectal neoplasia (Lammi et al. Am J Hum Genet 74:1043-1050, 2004). In patients with AXIN2 variants, oligodontia presented at an early age when their permanent teeth failed to develop, whereas colorectal neoplasia developed much later, usually between the ages of 30 and 60. Accordingly, screening patients with non-syndromic oligodontia for variants in the AXIN2 gene can be an effective way to identify individuals with a risk of developing colorectal cancer later in life.

Genetics

Oligodontia-colorectal cancer (OMIM 608615) syndrome is inherited in an autosomal dominant fashion. Lammi et al. (2004) described a large, four-generation Finnish family in which nine family members presented with oligodontia. All nine were found to have a heterozygous nonsense variant (p.Arg656*) in the AXIN2 gene, while none of the family members with normal dentation had the variant. Importantly, six (67%) of the individuals with oligodontia also developed colorectal neoplasia by the age of 62. In addition to this family, the authors also screened AXIN2 in other patients with oligodontia and identified a heterozygous frameshift variant (p.Asn666Glnfs*40) in a 13 year old boy. Interestingly, the healthy parents of this boy were not found to have the variant, indicating it was de novo. In addition to these germline variants, several somatic frameshift variants in AXIN2 have been identified in colorectal tumors, further providing support for the role of AXIN2 in the development of cancer (Liu et al. Nat Genet 26:146-147, 2000).

Clinical Sensitivity - Sequencing with CNV PG-Select

The clinical sensitivity of this test is currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the AXIN2 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 oligodontia. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.

Gene

Official Gene Symbol OMIM ID
AXIN2 604025
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Oligodontia-Colorectal Cancer Syndrome AD 608615

Related Test

Name
Colorectal Cancer Panel

Citations

  • De Coster, P. J., et.al. (2009). "Dental agenesis: genetic and clinical perspectives." J Oral Pathol Med 38(1): 1-17. PubMed ID: 18771513
  • Lammi, L., et.al. (2004). "Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer." Am J Hum Genet 74(5): 1043-50. PubMed ID: 15042511
  • Liu, W., et.al. (2000). "Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling." Nat Genet 26(2): 146-7. PubMed ID: 11017067
  • Matalova, E., et.al. (2008). "Tooth agenesis: from molecular genetics to molecular dentistry." J Dent Res 87(7): 617-23. PubMed ID: 18573979
  • Mostowska, A., et.al. (2006). "Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis." J Hum Genet 51(3): 262-6. PubMed ID: 16432638
  • Nieminen, P., et.al. (2001). "Identification of a nonsense mutation in the PAX9 gene in molar oligodontia." Eur J Hum Genet 9(10): 743-6. PubMed ID: 11781684
  • Nieminen, P., et.al. (2003). "MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia." J Dent Res 82(12): 1013-7. PubMed ID: 14630905

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

loading Loading... ×

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: $
×
Copy Text to Clipboard
×