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Waardenburg Syndrome Types IIE and IVC via the SOX10 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
SOX10 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8615SOX1081479 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

Waardenburg syndrome (WS) is an auditory-pigmentary disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the hair, including a white forelock and pigmentary changes of the iris such as heterochromia. WS is classified into 4 main types depending on the clinical symptoms and has causative mutations in different genes (Pingault et al. 2010).

WS I : Auditory-pigmentary abnormalities along with dystopia canthorum (lateral displacement of the inner canthi), caused by mutations in PAX3.

WS II : Auditory-pigmentary abnormalities without dystopia canthorum, caused by mutations in MITF, SNAI2 and SOX10.

WS III : Type I with musculo-skeletal abnormalities of the upper limb (Klein-Waardenburg syndrome) caused by mutations in PAX3.

WS IV : Type II with Hirschsprung disease (Waardenburg-Shah syndrome), caused by mutations in EDN3, EDNRB and SOX10.

WS type II is typified by sensorineural hearing loss and heterochromia iridumis observed in approximately 77% and 47% of affected individuals respectively, and is much more common than WS type I (Liu et al. 1995). Dystopia canthorum is NOT observed in WS II. WSII Individuals with mutations in SOX10 also show neurologic abnormalities, including mental impairment, myelination defects, and ataxia.

WS IV: Characterized by the presence of Hirschsprung disease in patients with Waardenburg syndrome type 2 with no dystopia canthorum. The majority of individuals have the classic white forelock and heterochromia iridium along with variable manifestations of sensorineural deafness and Hirschsprung disease.


WS type IIE and type IVC are autosomal dominant syndromes caused by heterozygous mutations in SOX10, which belongs to a family of genes called SRY(sex-determining region Y)-box genes. These genes play a critical role in the formation of tissues and organs during embryonic development. The SOX10 protein is active in neural crest cells and plays an essential role in the formation of nerves in the large intestine and melanocytes. Disruption or loss of the SOX10 protein results in the loss of enteric nerve cells that are critical to intestinal development, resulting in Hirschsprung disease. Similarly, a lack of melanocytes due to loss of the SOX10 protein also affects the coloring of skin, hair, and eyes and causes hearing loss, which are unique to Waardenburg syndrome. SOX10 point mutations (Iso et al. 2008) and deletions have been described in about 15% of individuals with WS2 and 40-50% of cases of WS4 (Bondurand et al. 2007).

Mutations in SOX10 are also known to be causative for PCWH (peripheral demyelinating neuropathy, central demyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease).

Clinical Sensitivity - Sequencing with CNV PGxome

About 30 mutations have been identified in SOX10 associated with WSIIE, WSIVC and PCWH. Since large deletions have not been described for SOX10, we believe that our sequencing test will be able to identify the great majority of mutations.

Testing Strategy

This test provides full coverage of all coding exons of the SOX10 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

Diagnostic criteria for Waardenburg syndrome type II (WSII) were outlined (Liu et al. 1995) and includes three important indicators: Congenital sensorineural hearing loss, complete heterochromia iridum (irides of different color) and absence of Dystopia canthorum. Diagnostic criteria for Waardenburg syndrome type II (WSIV) includes the presence of Hirschsprung Disease along with any one of the above mentioned criteria.


Official Gene Symbol OMIM ID
SOX10 602229
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Kallmann Syndrome (KS) Panel
Waardenburg Syndrome Panel


  • Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, et al. 2007. Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4. The American Journal of Human Genetics 81: 11691185. PubMed ID: 17999358
  • Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. 2008. SOX10 mutation in Waardenburg syndrome type II. Am. J. Med. Genet. A 146A: 21622163. PubMed ID: 18627047
  • Liu XZ, Newton VE, Read AP. 1995. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am. J. Med. Genet. 55: 95100. PubMed ID: 7702105
  • Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. 2010. Review and update of mutations causing Waardenburg syndrome. Human Mutation 31: 391406. PubMed ID: 20127975


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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