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WFS1-Related Disorders via the WFS1 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
WFS1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8265WFS181479 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

WFS1-related disorders range from Wolfram syndrome (WFS1) to WFS1-related low-frequency sensory hearing loss (also known as DFNA6/14/38 low-frequency sensorineural hearing loss (LFSNHL). WFS is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus and optic atrophy before age 15 years, typically associated with sensorineural hearing loss, progressive neurologic abnormalities (ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony), and other endocrine abnormalities. Median age at death is 30 years.

WFS-like disorder is characterized by sensorineural hearing loss, diabetes mellitus, psychiatric illness, and variable optic atrophy. WFS1-related LFSNHL is characterized by congenital, nonsyndromic, slowly progressive, low-frequency ( < 2000 Hz) sensorineural hearing loss (Tranebjaerg et al. 2009). WFS1 is also sometimes referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).


The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide with an autosomal recessive mode of inheritance. Mutations in the WFS1 gene account for more than 90 percent of Wolfram syndrome type 1 cases. WFS1 produces a protein called wolframin that is thought to regulate the amount of calcium in cells. Mutations in the gene lead to reduced or absent function, causing disease. At least 200 variants in WFS1 have been found to cause Wolfram syndrome, including nonsense, missense, inframe deletions, duplications as well as frameshift mutations.

Though WFS1 is inherited in an autosomal recessive manner, carriers of WFS1 mutations do appear to have an increased risk of hearing impairment (Pennings et al. 2004), but it is as yet unknown whether they could be at higher risk for diabetes mellitus and psychiatric disorders (Swift et al. 1998). WFS-like disorder is inherited in an autosomal dominant manner.

Clinical Sensitivity - Sequencing with CNV PGxome

Mutations in the WFS1 gene account for more than 90 percent of Wolfram syndrome type 1 cases. WFS1-related disorders occur due to a wide variety of mutations in the WFS1 gene, including nonsense, missense, inframe deletions and duplications as well as frameshift mutations. Most mutations occur in exon 8, and no founder mutations have thus far been identified (Hardy et al. 1999). Our full gene sequencing test is expected to detect >90% of WFS1 causative mutations (Khanim et al. 2001).

Testing Strategy

This test provides full coverage of all coding exons of the WFS1 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 following are criteria sensitive and specific for WFS (Barrett et al. 1995): juvenile-onset (before age 15 years) diabetes mellitus, juvenile-onset optic atrophy, sensorineural hearing impairment (which can sometimes be congenital and severe), ataxia, dementia/ intellectual disability (both may occur, but intellectual disability is rare), psychiatric disease and autosomal recessive inheritance. For Wolfram syndrome-like disease, individuals presenting with LFSNHL, diabetes mellitus, psychiatric illness, optic atrophy (variable) and autosomal dominant inheritance.


Official Gene Symbol OMIM ID
WFS1 606201
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Barrett TG, Poulton K, Bundey S. 1995. DIDMOAD syndrome; further studies and muscle biochemistry. J. Inherit. Metab. Dis. 18: 218–220. PubMed ID: 7564251
  • Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, Kirk J, Polymeropoulos M, Latif F, Barrett T. 1999. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am. J. Hum. Genet. 65: 1279–1290. PubMed ID: 10521293
  • Khanim F, Kirk J, Latif F, Barrett TG. 2001. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum. Mutat. 17: 357–367. PubMed ID: 11317350
  • Pennings RJE, Huygen PLM, Ouweland JMW van den, Cryns K, Dikkeschei LD, Camp G Van, Cremers CWRJ. 2004. Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. Audiol. Neurootol. 9: 51–62. PubMed ID: 14676474
  • Swift RG, Polymeropoulos MH, Torres R, Swift M. 1998. Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. Mol. Psychiatry 3: 86–91. PubMed ID: 9491819
  • Tranebjaerg L, Barrett T, Rendtorff ND. 2009. WFS1-Related Disorders. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301750


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