Deafness, Autosomal Recessive 30 (DFNB30) via the MYO3A 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
11495 MYO3A 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11495MYO3A81479 81479(x2) $890 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 backbone).

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

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

For Sanger Sequencing click here.

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

  • Ben Dorshorst, PhD

Clinical Features and Genetics

Clinical Features

Autosomal recessive deafness 30 (DFNB30) is characterized by late-onset (postlingual), bilateral, progressive, sensorineural nonsyndromic hearing loss. This disorder was initially reported in 2002 in a Jewish community in Mosul, Iraq, which was established in 586 B.C. and underwent a high level of endogamy, considerable emigration, and minimal immigration in the past 2,500 years (Walsh et al. 2002). 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). Initial stages of DFNB30 generally involve moderate high-frequency hearing loss during the second decade of life, which then progresses to severe to profound high- and mid-frequency and moderate low-frequency hearing loss by the fifth decade of life (Walsh et al. 2002). DFNB30 individuals generally show normal vision and balance and are considered the most responsive to cochlear implants (Wu et al. 2015).

Genetics

DFNB30 is an autosomal recessive hearing disorder that is caused by pathogenic sequence variants in the myosin IIIA (MYO3A) gene. MYO3A encodes a 1,616-amino acid actin-dependent motor protein that plays a critical role in the formation of stereocilia in the cochlear hair cells (Schneider et al. 2006). The MYO3A protein comprises an N-terminal domain, three 23-residue light-chain binding IQ motifs, and a C-terminal cargo-binding domain. The MYO3A protein is also expressed in the pancreas and retina (Quintero et al. 2010). The MYO3A gene is located on chromosome 10p12.1 and consists of 33 coding exons (Walsh et al. 2002). The MYO3A protein transports the actin-regulatory protein Espin 1 to the tips of stereocilia to increase its filament length, which is essential for hearing (Manor et al. 2012). The activity of the MYO3A protein is regulated through a mechanism involving concentration-dependent autophosphorylation (Quintero et al. 2013). To date, about 9 pathogenic MYO3A sequence variants have been reported to cause hearing loss, which include 3 chain termination (1 nonsense, 2 splicing) and 6 missense sequence variants (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity of this test has been reported to range from 3% to 7%. For example, in two independent Korean research studies, pathogenic sequence variants in the MYO3A gene accounted for ~3.1% (1/32) of families with nonsyndromic hearing loss (Choi et al. 2013; Chang and Choi 2014). In Japan, 6.9% (15/216) of deafness patients harbored disease-causing sequence variants in the MYO3A gene (Miyagawa et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the MYO3A 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

The ideal MYO3A test candidates are individuals who present with postlingual, bilateral, progressive, sensorineural, autosomal recessive nonsyndromic hearing loss. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MYO3A.

Gene

Official Gene Symbol OMIM ID
MYO3A 606808
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Deafness, Autosomal Recessive 30 AR 607101

Citations

  • Chang M.Y., Choi B.Y. 2014. Korean Journal of Audiology. 18: 45-9. PubMed ID: 25279224
  • Choi B.Y. et al. 2013. PLoS ONE. 8: e68692. PubMed ID: 23990876
  • Hildebrand M.S. et al. 2008. Genetics in Medicine. 10: 797-804. PubMed ID: 18941426
  • Human Gene Mutation Database (Bio-base).
  • Manor U. et al. 2012. Bioarchitecture. 2: 171-4. PubMed ID: 22954581
  • Miyagawa M. et al. 2013. PLoS One. 8: e71381. PubMed ID: 23967202
  • Quintero O.A. et al. 2010. The Journal of Biological Chemistry. 285: 35770-82. PubMed ID: 20826793
  • Quintero O.A. et al. 2013. The Journal of Biological Chemistry. 288: 37126-37. PubMed ID: 24214986
  • Schneider M.E. et al. 2006. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 10243-52. PubMed ID: 17021180
  • Walsh T. et al. 2002. Proceedings of the National Academy of Sciences of the United States of America. 99: 7518-23. PubMed ID: 12032315
  • Wu C.C. et al. 2015. Medicine. 94: e1073. PubMed ID: 26166082

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

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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