Deafness, Autosomal Recessive 59 (DFNB59) via the PJVK (DFNB59) 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
11591 PJVK 81405 81405,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11591PJVK81405 81405(x1), 81479(x1) $890 Order Options and Pricing

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).

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 59 (DFNB59) is a prelingual, severe to profound, stable, bilateral, nonsyndromic auditory neuropathy that is characterized by severely distorted or absent auditory brainstem responses but normal otoacoustic emissions from the outer hair cells of the cochlea (Borck et al. 2012). 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). The primary lesion of DFNB59 involves the inner hair cells, the auditory nerve, or the intervening synapse (Mujtaba et al. 2012). Individuals presenting with profound deafness for all frequencies may have impeded speech acquisition. Patients diagnosed with DFNB59 are generally compensated by hearing aids, whereas these individuals are strongly associated with poor cochlear implant performance (Ebermann et al. 2007; Wu et al. 2015).

Genetics

DFNB59 is an autosomal recessive hearing disorder that is caused by pathogenic sequence variants in the PJVK gene. PJVK is located on chromosome 2q31.2 and consists of 6 coding exons that encode a 352-amino acid pejvakin protein, which is a member of the gasdermine family and expressed in inner and outer hair cells, a subset of supporting cells, the spiral ganglion, and the cell bodies of neurons of the afferent auditory pathway (Delmaghani et al. 2006; Collin et al. 2007; Schwander et al. 2007). Functional studies using mouse models indicate that the pejvakin protein controls the development and function of mechanosensory hair cells in signal propagation and amplification of acoustic signals (Schwander et al. 2007). To date, a total of about 15 pathogenic PJVK sequence variants have been reported, which include 8 missense/nonsense, 5 small deletions, and 2 small insertions (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity of this test has been reported to range from 0.6% to 30%. For example, 0.6% (1/160) of families with autosomal recessive nonsyndromic deafness from Turkey, Iran, Mexico, Ecuador, and Puerto Rico were determined to have pathogenic PJVK sequence variants (Bademci et al. 2015). Another group reported that 1.3% (1/76) of patients with auditory neuropathy spectrum disorder showed causative sequence variants in the PJVK gene (Wang et al. 2011). Pathogenic PJVK sequence variants accounted for 2.9% (2/68) of Turkish deafness patients from consanguineous families and 2.4% (2/83) of Dutch patients with autosomal recessive hearing impairment (Collin et al. 2007). In two independent studies involving Iranian families with autosomal recessive nonsyndromic hearing loss, 1.4% (2/144; Babanejad et al. 2007) and 30% (9/30; Hashemzadeh Chaleshtori et al. 2007) were determined to harbor disease-causing sequence variants in the PJVK gene.

Testing Strategy

This test provides full coverage of all coding exons of the PJVK 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 DFNB59 test candidates are individuals who present with prelingual, severe to profound, stable, bilateral, nonsyndromic auditory neuropathy with severely distorted or absent auditory brainstem response but intact otoacoustic emissions. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PJVK.

Gene

Official Gene Symbol OMIM ID
PJVK 610219
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Deafness, Autosomal Recessive 59 AR 610220

Citations

  • Babanejad M. et al. 2012. American Journal of Medical Genetics. Part A. 158A: 2485-92. PubMed ID: 22903915
  • Bademci G. et al. 2015. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 0: N/A. PubMed ID: 26226137
  • Borck G. et al. 2012. Clinical Genetics. 82: 271-6. PubMed ID: 21696384
  • Collin R.W. et al. 2007. Human Mutation. 28: 718-23. PubMed ID: 17373699
  • Delmaghani S. et al. 2006. Nature Genetics. 38: 770-8. PubMed ID: 16804542
  • Ebermann I. et al. 2007. Human Mutation. 28: 571-7. PubMed ID: 17301963
  • Hashemzadeh Chaleshtori M. et al. 2007. Clinical Genetics. 72: 261-3. PubMed ID: 17718865
  • Hildebrand M.S. et al. 2008. Genetics in Medicine. 10: 797-804. PubMed ID: 18941426
  • Human Gene Mutation Database (Bio-base).
  • Mujtaba G. et al. 2012. Gene. 504: 98-101. PubMed ID: 22617256
  • Schwander M. et al. 2007. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 27: 2163-75. PubMed ID: 17329413
  • Wang J. et al. 2011. Plos One. 6: e24000. PubMed ID: 21935370
  • 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.
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