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Deafness, Autosomal Dominant 64 (DFNA64) via the DIABLO 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
DIABLO 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3997DIABLO81479 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

Nonsyndromic hearing loss is characterized by difficulty or inability to hear that is not associated with any visible defects involving the external ear, other organs, or any other medical condition. Nonsyndromic hearing loss may be associated with abnormalities involving the middle ear and/or the inner ear (Ciuman 2013; Dodson et al. 2011; Hilgert et al. 2009). At least 70% of cases involving hearing loss are nonsyndromic (Van Camp et al. 1997).

Nonsyndromic hearing loss and deafness due to pathogenic variants in the DIABLO gene involves postlingual, bilateral, moderate to severe, progressive sensorineural hearing impairment with flat audiograms. Age of onset is in the second or third decade. High-frequency tinnitus is reported in 73% of affected individuals. No vertigo or inner-ear malformations are present (Cheng et al. 2011).


DFNA64 is an autosomal dominant hearing disorder that is caused by pathogenic sequence variants in the diablo IAP-binding mitochondrial protein (DIABLO) gene, which is located on chromosome 12q24.31. The DIABLO gene spans 23.8 kb and consists of 6 coding exons that produce a 239 amino acid protein. The DIABLO protein is normally found in the mitochondria, and when released into the cytosol promotes apoptosis by binding to inhibitor-of-apoptosis proteins and preventing them from inhibiting caspases (Du et al. 2000; Verhagen et al. 2000).

The DIABLO gene is expressed in a wide variety of human embryonic tissues including the inner ear. In the mouse embryonic inner ear the DIABLO protein is enriched in the hair cells of the inner ear. Pathogenic variants in DIABLO are thought to act via mitochondrial dysfunction leading to hair cell degeneration over time (Cheng et al. 2011).

DFNA64 was first described in a large 6-generation Chinese family with autosomal dominant nonsyndromic sensorineural hearing loss. A missense variant in the DIABLO gene was identified as the cause of hearing loss in this family (Cheng et al. 2011). Only one other missense variant in the DIABLO gene has been identified as pathogenic for nonsyndromic sensorineural hearing loss (Sloan-Heggen et al. 2016).

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 1,119 patients with hearing loss in which 440 patients received a genetic diagnosis, only one pathogenic variant in the DIABLO gene was detected (Sloan-Heggen et al. 2016). In total, only two missense variants in DIABLO have been reported as pathogenic for hearing loss (Cheng et al. 2011; Sloan-Heggen et al. 2016). Analytical sensitivity should be high because all reported variants are detectable by sequencing.

No deletion or duplication variants associated with DIABLO have been reported as pathogenic for hearing loss.

Testing Strategy

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

Nonsyndromic hearing loss and deafness due to variants in the DIABLO gene is suspected in individuals with the following: postlingual, bilateral, moderate to severe, progressive sensorineural hearing impairment with flat audiograms; no related systemic findings identified by medical history and physical examination; and/or a family history of nonsyndromic hearing loss consistent with autosomal dominant inheritance.


Official Gene Symbol OMIM ID
DIABLO 605219
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Deafness, Autosomal Dominant 64 AD 614152


  • Cheng J. et al. 2011. American Journal of Human Genetics. 89: 56-66. PubMed ID: 21722859
  • Ciuman R.R. 2013. Medical Science Monitor. 19: 1195-210. PubMed ID: 24362017
  • Dodson K.M. et al. 2011. American Journal of Medical Genetics. Part A. 155A: 993-1000. PubMed ID: 21465647
  • Du C. et al. 2000. Cell. 102: 33-42. PubMed ID: 10929711
  • Hilgert N. et al. 2009. Mutation Research. 681: 189-96. PubMed ID: 18804553
  • Sloan-Heggen C.M. et al. 2016. Human Genetics. 135: 441-50. PubMed ID: 26969326
  • Van Camp G. et al. 1997. American Journal of Human Genetics. 60: 758-64. PubMed ID: 9106521
  • Verhagen A.M. et al. 2000. Cell. 102: 43-53. PubMed ID: 10929712


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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2) Select Additional Test Options

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