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Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA 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
TECTA 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11739TECTA81479 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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.


Genetic Counselors


  • Ben Dorshorst, PhD

Clinical Features and Genetics

Clinical Features

Autosomal dominant deafness 12 (DFNA12) is characterized by mid- to high-frequency, mild to moderately severe, stable to progressive, prelingual, sensorineural nonsyndromic hearing loss (Bai et al. 2014). The degree of hearing impairment in DFNA12 is generally similar among all affected members of the family, regardless of age or sex. DFNA12 generally has a childhood onset (Iwasaki et al. 2002). Autosomal recessive deafness 21 (DFNB21) is characterized by low- to mid-frequency, severe to profound, stable, prelingual, sensorineural nonsyndromic hearing loss (Naz et al. 2003). Varying degrees of residual hearing can also be observed in a subset of hearing loss patients (Kim et al. 2015). The audioprofile of most nonsyndromic hearing loss cases can be distinct, thus assisting in the development of an evaluation strategy for molecular genetic testing and in generating a prognosis on the rate of hearing loss per year (Hildebrand et al. 2008).


DFNA12, an autosomal dominant hearing disorder, and DFNB21, an autosomal recessive hearing disorder, are caused by pathogenic sequence variants in the alpha tectorin (TECTA) gene, which is one of the major noncollagenous components of the tectorial membrane of the inner ear. This membrane lies above the stereocilia of sensory hair cells, inducing fluctuations in its membrane potential, thereby transducing and amplifying sound into electrical signals (Legan et al. 2000). The TECTA protein is a large modular glycoprotein that consists of three distinct modules: the entactin G1 domain, the zonadhesin domain, and the zona pellucida domain (Alloisio et al. 1999). The TECTA gene is 88 kb in size, located in chromosome 11q23.3, and consists of 23 coding exons (Hughes et al. 1998). To date, a total of about 70 pathogenic TECTA sequence variants have been reported, which include missense/nonsense, splicing, small deletions, small insertions, small indels, gross deletions, gross insertions/duplications, and complex rearrangements (Human Gene Mutation Database). Most missense variants in the TECTA gene are causative for DFNA12, whereas truncated mutations, including nonsense, frameshift, and splicing, generally result in DFNB21.

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity of the TECTA test ranges from 0.2% to 10%. For example, pathogenic TECTA sequence variants were detected in 0.2% (2/1,120) of Japanese patients with nonsyndromic hearing loss (Nishio and Usami 2015). In China, 0.8% (1/125) of deaf probands who did not have pathogenic sequence variants in the GJB2, SLC26A4, and MT-RNR1 genes were determined to carry causative TECTA variants (Yang et al. 2013). Disease-causing TECTA variants were responsible for 1.07% (9/73) of American patients and 4.03% (15/372) of Spanish patients with DFNA12 (Hildebrand et al. 2011). On the other hand, pathogenic sequence variants in the TECTA gene accounted for 3.2% (2/62 and 1/32, respectively) of Korean patients with nonsydromic hereditary hearing loss (Sagong et al. 2010; Choi et al. 2013). In Iran, 3.3% (1/30) of patients with DFNB21 harbored causative TECTA variants (Diaz-Horta et al. 2012). In Japan, 5.8% (13/216) of deaf patients presented with causative sequence variants in the TECTA gene (Miyagawa et al. 2013). Pathogenic TECTA sequence variants were observed in 8.3% (1/12) of deaf families coming from Italy and Qatar (Vozzi et al. 2014). In another Korean study, 9.1% (1/11) of children with mild to moderate sensorineural hearing loss were determined to carry pathogenic TECTA sequence variants (Kim et al. 2015). Approximately 10% (2/20) of Palestinian families with prelingual nonsyndromic hearing showed causative TECTA sequence variants (Shahin et al. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the TECTA 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

Ideal TECTA test candidates are individuals who present with prelingual, autosomal dominant or recessive nonsyndromic hearing loss. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TECTA.


Official Gene Symbol OMIM ID
TECTA 602574
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Alloisio N. et al. 1999. European Journal of Human Genetics. 7: 255-58. PubMed ID: 10196713
  • Bai H. et al. 2014. BMC Medical Genetics. 15: 34. PubMed ID: 25008054
  • Choi B.Y. et al. 2013. PLoS ONE. 8: e68692. PubMed ID: 23990876
  • Diaz-Horta O. et al. 2012. Plos One. 7: e50628. PubMed ID: 23226338
  • Hildebrand M.S. et al. 2008. Genetics in Medicine. 10:797-804. PubMed ID: 18941426
  • Hildebrand M.S. et al. 2011. Human Mutation. 32: 825-34. PubMed ID: 21520338
  • Hughes D.C. et al. 1998. Genomics. 48: 46-51. PubMed ID: 9503015
  • Human Gene Mutation Database (Bio-base).
  • Iwasaki S. et al. 2002. Archives of Otolaryngology, Head, and Neck Surgery. 128: 913-7. PubMed ID: 12162770
  • Kim N.K. et al. 2015. Genetics in Medicine. 213:1-11. PubMed ID: 25719458
  • Legan P.K. et al. 2000. Neuron. 28: 273-85. PubMed ID: 11087000
  • Miyagawa M. et al. 2013. PLoS One. 8: e71381. PubMed ID: 23967202
  • Naz S. et al. 2003. Journal of Medical Genetics. 40: 360-3. PubMed ID: 12746400
  • Nishio S.Y., Usami S. 2015. The Annals of Otology, Rhinology, and Laryngology. 124 Suppl 1: 49S-60S. PubMed ID: 25788563
  • Sagong B. et al. 2010. Annals of Clinical and Laboratory Science. 40: 380-85. PubMed ID: 20947814
  • Shahin H. et al. 2010. European Journal of Human Genetics. 18: 407-13. PubMed ID: 19888295
  • Vozzi D. et al. 2014. Gene. 542: 209-16. PubMed ID: 24657061
  • Yang T. et al. 2013. Orphanet Journal of Rare Diseases. 8: 85-92. PubMed ID: 23767834


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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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