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Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct via the KCNJ10 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
KCNJ10 81404 81404,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3807KCNJ1081404 81404,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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

Pendred syndrome is a congenital or prelingual sensorineural hearing impairment disorder that generally causes severe to profound hearing loss and other findings. Clinical features, in addition to hearing loss, can include an enlarged vestibular aqueduct (EVA), temporal bone abnormalities, and development of euthyroid goiter in late childhood to early adulthood (Smith. 2017. PubMed ID: 20301640). Individuals with Pendred syndrome who have EVA can also have cochlear hypoplasia, which when both are present are termed Mondini malformation/dysplasia. Deafness, autosomal recessive 4 (DFNB4) is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA) without thyroid defects. Both Pendred syndrome and DFNB4 are caused by a partial iodide organification defect. This abnormality can be detected using a perchlorate test, which determines whether iodide is organified normally into thyroglobulin (Bizhanova and Kopp. 2010. PubMed ID: 20298745).


Pendred syndrome and DFNB4 are autosomal recessive disorders that show variable expressivity, even within the same family. They are caused by variants in the solute carrier family 26 member 4 (SLC26A4), (forkhead box I1) FOXI1, and (potassium voltage-gated channel subfamily J member 10) KCNJ10 genes.

Variants in KCNJ10 have been implicated in Pendred syndrome via the role of the KCNJ10 protein in maintaining the endocochlear potential that is necessary for proper auditory function and reduced KCNJ10 expression in the stria vascularis of SLC26A4 knockout mice (Yang et al. 2009. PubMed ID: 19426954). Digenic inheritance of heterozygous variants in SLC26A4 and KCNJ10 has been documented in two families with nonsyndromic hearing loss and EVA (Yang et al. 2009. PubMed ID: 19426954).

Variants in KCNJ10 have also been implicated in a complex syndrome that consists of seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance, or SESAME syndrome (Scholl et al. 2009. PubMed ID: 19289823; Sala-Rabanal et al. 2010. PubMed ID: 20807765). Another disorder related to renal function known as epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST) syndrome is also caused by KCNJ10 variants (Bockenhauer et al. 2009. PubMed ID: 19420365; Reichold et al. 2010. PubMed ID: 20651251). More than 20 causative variants have been reported in the KCNJ10 gene, consisting primarily of missense variants, with a small number of nonsense and small frameshift deletions (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

A small population study involving 29 patients with sensorineural hearing loss with inner ear malformations reported that 6.9% of the detected potentially causative variants were in the KCNJ10 gene (Pique et al. 2014. PubMed ID: 24860705). This is considerably higher than a meta-analysis of published studies which showed that 3.1% of suspected DFNB4/Pendred syndrome patients were found to have potentially causative variants in the KCNJ10 gene (Pique et al. 2014. PubMed ID: 24860705).

No large deletions or duplications in KCNJ10 have been reported (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of the single coding exon of the KCNJ10 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with sensorineural hearing loss and enlarged vestibular aqueduct (EVA). Individuals may also display temporal bone abnormalities, euthyroid goiter, cochlear hypoplasia, Mondini malformation/dysplasia or positive perchlorate discharge test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KCNJ10.


Official Gene Symbol OMIM ID
KCNJ10 602208
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Enlarged Vestibular Aqueduct Syndrome AR 600791
SeSAME Syndrome AR 612780

Related Tests

Hypomagnesemia Panel
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Panel
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct via the FOXI1 Gene
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct via the SLC26A4 Gene


  • Bizhanova and Kopp. 2010. PubMed ID: 20298745
  • Bockenhauer et al. 2009. PubMed ID: 19420365
  • Human Gene Mutation Database (Bio-base).
  • Pique et al. 2014. PubMed ID: 24860705
  • Reichold et al. 2010. PubMed ID: 20651251
  • Sala-Rabanal et al. 2010. PubMed ID: 20807765
  • Scholl et al. 2009. PubMed ID: 19289823
  • Smith. 2017. PubMed ID: 20301640
  • Yang et al. 2009. PubMed ID: 19426954


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

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