Test Overview

Test Methodology

The coding exons and associated, adjacent consensus splice sites of the WFS1 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

Analysis of the presence of WFS1 mutations in sensorineural deafness patients, confirmation of a diagnosis of Wolfram Syndrome, and carrier testing in families with a know WFS1 mutation.

Reference Range*

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

This assay will not detect large deletions in the WFS1 gene or intronic mutations outside the region sequenced in the WFS1 gene. In addition, mutations in other genes associated with sensorineural deafness or Wolfram Syndrome will not be identified.

Test Details

Days Test Performed

Monday - Friday

Analytic Time

21 - 28 days

Soft Order Code


MiChart Code

Wolfram Syndrome (WFS1) Gene Sequencing



WFS1 Gene Sequencing
WFS1 Mutation Analysis
Sensorineural Deafness Testing
WFS1 Sequencing
Autosomal Dominant Non-Syndromic Sensorineural Deafness Testing
WFS1 Gene Sequencing Shadow
Hearing Loss

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Specimen Requirements

Offsite Collection Instructions

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….


Lavender Top Tube

Normal Volume

5 - 10 mL EDTA whole blood

Minimum Volume

2 mL EDTA whole blood

Additional Information

By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

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