GTR Home > Tests > Wolfram syndrome sequencing panel

Overview

Test name

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Wolfram syndrome sequencing panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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2 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

2 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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WFS1 encodes a glycoprotein called wolframin, which predominantly localizes to the endoplasmic reticulum. Mutations associated with Wolfram syndrome typically lead to a loss of protein function, whereas non-activating mutations have been identified in heterozygous carriers with autosomal dominant low frequency sensorineural hearing loss. CISD2 encodes an intermembrane protein in the endoplasmic reticulum. Although the CISD2 protein does not appear to directly interact with wolframin, they both appear to be involved in calcium homeostasis.

Citations
  • Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. - PubMed ID: 12955714
  • A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. - PubMed ID: 17846994
  • Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. - PubMed ID: 21538838

Clinical utility

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Establish or confirm diagnosis

Citations
  • Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. - PubMed ID: 12955714
  • A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. - PubMed ID: 17846994
  • Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. - PubMed ID: 21538838

How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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